Co-Authors
AuthorsNo. of Publications
tong, sf 57
mak, cm 49
tam, s 34
chan, ayw 30
yuen, yp 30
law, cy 29
chan, yw 28
lai, ck 24
lee, kc 21
chan, ky 19
siu, ts 17
yuen, ky 17
lau, kc 13
to, kkw 13
lau, skp 12
law, cy 12
siu, wk 12
shek, cc 11
woo, pcy 11
chan, mhm 10
ko, ch 10
poon, wt 10
yeung, wl 10
lee, hhc 9
mak, twl 9
pang, cp 9
chan, aok 8
chan, ly 8
chiu, rwk 8
hui, j 8
leung, kf 8
sze, kh 8
tai, mhl 8
chen, spl 7
fong, nc 7
kwong, yl 7
siu, cwk 7
cho, sy 6
fung, cw 6
lee, hch 6
ling, tk 6
to, kf 6
tsang, mw 6
wong, kc 6
wong, ljc 6
wong, vcn 6
au, km 5
chan, pks 5
fan, st 5
li, ck 5
poon, pmk 5
shek, acc 5
wong, ks 5
wong, ssy 5
yang, t 5
au, wy 4
chan, jfw 4
cheung, jlk 4
cheung, km 4
chow, cc 4
chow, wn 4
curreem, sot 4
galli, l 4
hung, fni 4
ke, y 4
kumana, cr 4
kwong, ns 4
lai, cl 4
lam, ksl 4
ma, rcw 4
ng, kf 4
orrico, a 4
poon, pm 4
so, wy 4
sorrentino, v 4
tam, wt 4
wong, shs 4
yung, ky 4
chan, e 3
chan, lys 3
chan, yk 3
chen, ml 3
chen, yj 3
cheng, af 3
cheng, awf 3
ching, ck 3
chow, km 3
choy, kw 3
fok, tf 3
huang, dp 3
huen, kf 3
kong, aps 3
kou, m 3
lai, st 3
lam, sts 3
lau, cy 3
lee, cy 3
li, r 3
lo, kc 3
lo, kw 3
lo, ymd 3
luk, nm 3
ma, o 3
mak, wl 3
mak, yt 3
mok, ns 3
ng, km 3
sheng, b 3
sridhar, s 3
tang, hw 3
tang, hy 3
tang, mhy 3
tiu, sc 3
tsang, ks 3
tsoi, th 3
xie, j 3
yan, msc 3
yuen, lyp 3
baum, l 2
benedetti, a 2
chan, atc 2
chan, b 2
chan, by 2
chan, gcf 2
chan, hm 2
chan, mym 2
chan, nph 2
chan, sf 2
chan, ssc 2
chan, tyc 2
chan, wt 2
chan, yt 2
chang, t 2
chau, tn 2
che, cm 2
che, x 2
chen, jhk 2
cheng, sh 2
cheng, wf 2
cheung, kk 2
cheung, kt 2
cheung, skk 2
chik, kw 2
ching, dck 2
chiu, a 2
chong, yk 2
chow, cb 2
chow, lsn 2
chow, tc 2
chow, ws 2
chung, pk 2
cockram, cs 2
dammann, r 2
ding, sy 2
dotti, mt 2
dzau, vj 2
federico, a 2
fu, cc 2
gu, q 2
he, yl 2
ho, cs 2
ho, pc 2
hui, a 2
hung, ifn 2
hwu, wl 2
kan, nca 2
kong, ck 2
lam, cwk 2
lam, yy 2
lau, a 2
lau, km 2
lau, yl 2
law, ty 2
lee, v 2
leung, asp 2
leung, aym 2
leung, ekh 2
leung, n 2
leung, sc 2
li, ws 2
li, wwh 2
liang, mh 2
lie ken jie, msf 2
liew, cc 2
liu, cl 2
lo, awi 2
lo, kk 2
lo, kwk 2
loong, f 2
lui, ym 2
mak, r 2
mu, s 2
ng, ehy 2
ng, gs 2
ng, kc 2
ng, kl 2
ng, mhl 2
ng, pc 2
ngan, ahy 2
peng, hm 2
que, tl 2
shing, mmk 2
siu, pm 2
tai, hl 2
tam, ar 2
tam, wh 2
tan, kcb 2
tomlinson, b 2
tse, h 2
tsui, pt 2
tze, k 2
wong, ck 2
wong, cyg 2
woo, yc 2
wu, xq 2
yau, e 2
yau, ek 2
yau, ekc 2
yau, mm 2
yeung, wsb 2
yuen, nwf 2
yuen, p 2
acquavivabourdain, c 1
adeoye, a 1
akhee, sj 1
allen, pd 1
andersson, r 1
araujo rodrigues funayama, c 1
arlt, w 1
au, ck 1
au, kl 1
au, lwc 1
au, ts 1
au, wcl 1
bai, c 1
barrans, jd 1
basheer, sn 1
battisti, c 1
berger, t 1
berman, hk 1
bonifas, jm 1
brea-calvo, g 1
brenner, d 1
brüstle, a 1
buckley, ta 1
burchell, a 1
but, d 1
but, wm 1
camelo junior, js 1
cescon, dw 1
chan, akc 1
chan, akh 1
chan, ayy 1
chan, ck 1
chan, cw 1
chan, cy 1
chan, dkh 1
chan, eyt 1
chan, f 1
chan, fhw 1
chan, hf 1
chan, jcn 1
chan, jcw 1
chan, kc 1
chan, kl 1
chan, kw 1
chan, lc 1
chan, ow 1
chan, sc 1
chan, sw 1
chan, sy 1
chan, syy 1
chan, tl 1
chan, tyk 1
chan, wb 1
chan, wh 1
chan, wm 1
chan, wp 1
chan, ys 1
chang, cm 1
chang, hh 1
chau, csk 1
chau, sl 1
chen, aok 1
chen, l 1
chen, sp 1
chen, wt 1
chen, xm 1
chen, y 1
chen, ya jun 1
cheng, cw 1
cheng, fwt 1
cheng, ts 1
cheng, vcc 1
cheng, wt 1
cheng, x 1
cheng, yh 1
cheng, ys 1
cheung, cfm 1
cheung, ck 1
cheung, cy 1
cheung, kkt 1
cheung, kl 1
cheung, m 1
cheung, rck 1
cheung, th 1
cheung, yf 1
cheung, yfn 1
chiang, g 1
chien, yh 1
chik, kk 1
chim, s 1
chipui, p 1
chiu, mc 1
chiu, rw 1
chiu, sc 1
choi, kl 1
choi, yc 1
chong, j 1
chou, ch 1
chow, cm 1
chow, kck 1
chow, ltc 1
chow, myp 1
chow, wang ngai 1
chu, i 1
chu, ik 1
chu, jwy 1
chu, wcw 1
chu, x 1
chu, yp 1
chui, ssy 1
chung, s 1
chung, ssc 1
cox, ma 1
curreem, so 1
dai, j 1
dantas pinto, kg 1
de fátima turcato, m 1
de sauvage, fj 1
de stefano, n 1
djaldetti, r 1
done, sj 1
elia, a 1
epstein jr, eh 1
esquerda, a 1
fan, ky 1
fan, yh 1
fananapazir, l 1
fehniger, te 1
feng, y 1
fong, b 1
fong, bmw 1
fong, chy 1
fong, hy 1
fong, syy 1
fu, ypm 1
fulceri, r 1
funayama, m 1
fung, am 1
fung, e 1
fung, ksc 1
fung, lm 1
fung, lwe 1
fung, wc 1
gao, w 1
gao, zq 1
gatti, r 1
goddard, a 1
goh, dl 1
gorrini, c 1
gunduz, a 1
ha, sy 1
harris, is 1
hattori, n 1
hayek, g 1
hendson, g 1
hjelm, nm 1
ho, ayy 1
ho, cca 1
ho, chi chun 1
ho, ckw 1
ho, dt 1
ho, km 1
ho, ky 1
ho, lc 1
ho, pl 1
ho, tw 1
ho, ty 1
hon, kle 1
honour, jw 1
hsiao, hj 1
hsu, yy 1
hu, hl 1
huang, hd 1
huang, sz 1
huang, ya jun 1
huang, yj 1
hui, cf 1
hui, dsc 1
hui, kn 1
hui, sw 1
hui, tws 1
hui, y 1
hui, yw 1
hukin, j 1
hung, ct 1
hung, i 1
hung, lye 1
hung, sf 1
hung, vcn 1
hung, wk 1
hwang, il 1
hwang, jj 1
hynes, m 1
imamichi, y 1
inoue, s 1
ip, j 1
jain, k 1
jin, d 1
jin, j 1
johnson, pj 1
jong, yj 1
joynt, gm 1
kaarls, r 1
kam, gy 1
kao, ryt 1
kavanagh, tj 1
kay, r 1
kho, bcs 1
khokha, r 1
khong, pl 1
knobbe-thomsen, cb 1
kong, fy 1
koo, ew 1
korkmaz, b 1
kubo, si 1
kung, aw 1
kwan, eyw 1
kwok, kl 1
kwong, j 1
kwong, kl 1
kwong, ll 1
lai, ckc 1
lai, fmm 1
lai, jps 1
lai, jy 1
lai, km 1
lam, acf 1
lam, dsy 1
lam, jk 1
lam, ko 1
lam, ks 1
lam, sf 1
lam, wwm 1
lan, l 1
lan, lcl 1
lau, ch 1
lau, cky 1
lau, ecl 1
lau, et 1
lau, etk 1
lau, eyt 1
lau, kk 1
lau, kkd 1
lau, ks 1
lau, lk 1
lau, nkc 1
lau, sk 1
lau, susanna k p 1
lau, tcg 1
lau, wl 1
lau, yk 1
law, c 1
law, cw 1
law, el 1
law, lk 1
law, wk 1
lee, ach 1
lee, atc 1
lee, cc 1
lee, ch 1
lee, cha 1
lee, chp 1
lee, ck 1
lee, cn 1
lee, cwa 1
lee, hc 1
lee, hk 1
lee, kf 1
lee, kh 1
lee, kim chung 1
lee, kl 1
lee, kp 1
lee, kw 1
lee, lp 1
lee, n 1
lee, nc 1
lee, nsl 1
lee, p 1
lee, rsy 1
lee, sc 1
lee, syb 1
lee, vhf 1
leung, cb 1
leung, cy 1
leung, hw 1
leung, hyc 1
leung, ky 1
leung, pw 1
leung, sf 1
leung, sy 1
leung, tw 1
leung, ykf 1
li, am 1
li, ch 1
li, ct 1
li, hwr 1
li, ps 1
li, rhw 1
li, sh 1
li, wy 1
li, y 1
li, yx 1
liang, wc 1
lie, akw 1
liebman, m 1
lim, pl 1
lin, cj 1
lin, ts 1
ling, sc 1
liu, e 1
liu, hsy 1
liu, r 1
lo, cm 1
lo, cs 1
lo, fm 1
lo, fmi 1
lo, if 1
lo, ifm 1
lo, kl 1
lo, ky 1
lo, wh 1
lo, yk 1
lo, ym 1
lok, a 1
lok, cn 1
loksun, u 1
lolin, yi 1
loo, kt 1
low, l 1
low, lck 1
lui, dtw 1
lui, twd 1
luk, a 1
luk, dck 1
luk, hm 1
luk, my 1
luo, yf 1
luoh, sm 1
ma, ck 1
ma, lc 1
ma, ock 1
mak, dwy 1
mak, mc 1
mak, rwm 1
mak, sk 1
mak, tw 1
mak, yf 1
man tung, c 1
man, sh 1
manwo, t 1
marcolongo, p 1
marincola, fm 1
marko-varga, g 1
martelli, p 1
martiniuk, f 1
masarei, jr 1
masarei, jrl 1
mason, jm 1
mccormick, f 1
melamed, e 1
melis, d 1
miller, wl 1
mizuno, y 1
mk, pp 1
mok, vct 1
molyneux, sd 1
morgan, rr 1
morris, j 1
morris, jg 1
murone, m 1
ng, ckf 1
ng, dk 1
ng, ekw 1
ng, gsf 1
ng, hk 1
ng, hl 1
ng, kp 1
ngan, ah 1
nishioka, k 1
ohi, t 1
ong, ht 1
onkei chan, a 1
ooi, cgc 1
ozaki, r 1
pan, nyk 1
pang, cy 1
parini, r 1
pong, h 1
poon, dwt 1
poon, kh 1
poon, mk 1
poon, p 1
poon, wkg 1
poon, wl 1
poon-mak, rs 1
porcel, jm 1
poskitt, k 1
qian, m 1
reiss, j 1
rhodes, w 1
rivas, mc 1
rosenthal, a 1
ryan, a 1
sargent, m 1
sasaki, m 1
sass, jo 1
sato, k 1
sau, ct 1
schooling, cm 1
schooling, m 1
seta, k 1
seto, wk 1
severi, s 1
sham, co 1
shek, a 1
shek, tw 1
sicurelli, f 1
silva, dk 1
sin, dwm 1
sin, nc 1
sin, sy 1
siu, dyw 1
siu, parco m. 1
siu, pmf 1
siu, s 1
siu, sly 1
sridhar, siddharth 1
suifan, t 1
sung, jjy 1
sy, b 1
sy, twb 1
szeto, sc 1
tai, ss 1
tak, hc 1
takashima, h 1
tam, ewt 1
tam, js 1
tam, pkh 1
tam, sc 1
tam, sct 1
tam, v 1
tan, kc 1
tang, bs 1
tang, hmv 1
tang, nls 1
tang, wf 1
tang, xm 1
tao, sh 1
taskiran, e 1
teng, jl 1
tian, x 1
to, kk 1
to, kw 1
to, wk 1
tomiyama, h 1
tong, cc 1
tong, ct 1
tong, gmw 1
tong, hf 1
tong, jhm 1
tong, kl 1
tong, pcy 1
tong, twc 1
tong, tyt 1
treloar, ae 1
tsang, cc 1
tsang, dnc 1
tsang, jpk 1
tsang, kl 1
tsang, ty 1
tsang, wk 1
tsao, sw 1
tse, bph 1
tse, k 1
tse, km 1
tse, mk 1
tse, pwt 1
tse, wy 1
tseng, gc 1
tsui, ms 1
tsui, sh 1
tsui, tkc 1
tuysuz, b 1
uyama, e 1
vives, m 1
wakeham, a 1
walter, m 1
wang, e 1
wang, j 1
wang, w 1
wang, x 1
waters, pj 1
whatley, sd 1
williams, jc 1
wing, yk 1
wong, akm 1
wong, cf 1
wong, chun kwok 1
wong, cn 1
wong, fkm 1
wong, gwk 1
wong, k 1
wong, ky 1
wong, lj 1
wong, pn 1
wong, s 1
wong, s 1
wong, sc 1
wong, scy 1
wong, sk 1
wong, stephen h. 1
wong, tw 1
wong, v 1
wong, wc 1
wong, wk 1
wong, ws 1
wong, yl 1
wong, ymm 1
wong, yy 1
woo, patrick c y 1
woo, pc 1
wu, a 1
wu, akl 1
wu, al 1
wu, d 1
wu, jl 1
wu, l 1
wu, sp 1
wu, x 1
yalcinkaya, c 1
yam, wc 1
yamamoto, k 1
yan, kw 1
yanasse dos santos, l 1
yang, d 1
yau, kc 1
yau, kce 1
yazawa, s 1
yeung, cw 1
yeung, hmj 1
yeung, s 1
yeung, sys 1
yip, sf 1
yiu, sf 1
yong, l 1
yoshino, h 1
ys, cl 1
yu, cm 1
yu, wc 1
yuen, kwok yung 1
yuen, ky 1
yuen, mf 1
yuen, pm 1
yuen, pmp 1
yung, io 1
yung, k 1
yung, tc 1
yw, kg 1
zappella, m 1
zha, y 1
zhang, c 1
zhang, vw 1
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Co-Inventors
InventorsNo. of Patents
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Keywords in Publications
keywordsNo. of Authors
humans 20
biomarkers 16
burkholderia pseudomallei 16
melioidosis 16
metabolomics 16
female 12
mutation 11
plasma 10
hong kong chinese 9
male 9
asian continental ancestry group - genetics 8
child 8
child, preschool 8
dna mutational analysis 8
hong kong 8
adult 7
age‐specific reference range 7
anti‐müllerian hormone 7
automated chemiluminescence assay 7
chinese women 7
covid-19 7
diagnosis 7
euthyroid sick syndromes 7
polycystic ovary syndrome 7
sars-cov-2 7
thyroid function tests 7
thyroid gland 7
thyroiditis 7
adolescent 6
amino acid substitution 6
asian continental ancestry group 6
aspergillus 6
aspergillus hongkongensis sp. nov. 6
ceruloplasmin - metabolism 6
infant 6
laboratory 6
maldi-tof ms 6
metabolic fingerprinting 6
onychomycosis 6
sequencing 6
specific 6
aged 5
alanine transaminase - blood 5
amyloidosis, familial - ethnology - genetics - pathology 5
copper/urine 5
dna mutational analysis - methods 5
familial transthyretin amyloidosis 5
food contamination 5
genotype 5
hepatolenticular degeneration - complications - diagnosis - drug therapy - genetics - metabolism 5
kidney calculi - etiology - urine 5
middle aged 5
prealbumin - genetics 5
sensitivity and specificity 5
spectrometry, mass, matrix-assisted laser desorption-ionization 5
triazines - analysis - chemistry - urine 5
ttr gene 5
wilson disease 5
age of onset 4
atp7b 4
base sequence 4
bone neoplasms - complications - diagnosis 4
chromosomal proteins, non-histone 4
cyanuric acid 4
dna-binding proteins - genetics 4
dopa-responsive dystonia 4
gene frequency 4
genetic heterogeneity 4
giant cell tumor of bone - complications - diagnosis 4
haplotype 4
haplotypes 4
hepatolenticular degeneration - genetics 4
hypophosphatemia - etiology 4
kidney calculi - epidemiology - metabolism - urine 4
linkage disequilibrium 4
melamine 4
melamine-associated renal stone disease 4
novel mutation 4
osteomalacia - etiology 4
p.r778l founder mutation 4
repressor proteins 4
soft tissue neoplasms - complications - diagnosis 4
treatment outcome 4
triazines - administration & dosage - metabolism - urine 4
tyrosine hydroxylase deficiency 4
administration, oral 3
antineoplastic combined chemotherapy protocols - therapeutic use 3
arsenicals - administration & dosage 3
cerebrospinal fluid neurotransmitters 3
children 3
chinese 3
csf neurotransmitters 3
deficiency diseases - drug therapy 3
deranged liver function 3
dopamine agents - therapeutic use 3
dystonia - genetics 3
frontal lobe - pathology 3
galactorrhea - genetics 3
glycemic index 3
homovanillic acid 3
homovanillic acid - metabolism 3
hypoceruloplasminemia 3
infant, newborn 3
leukemia, promyelocytic, acute - complications - drug therapy 3
levodopa - therapeutic use 3
magnetic resonance imaging 3
magnetic resonance spectroscopy - diagnostic use 3
medical sciences 3
methyl-cpg-binding protein 2 3
muscle hypotonia - genetics 3
mutational analysis 3
nasopharyngeal carcinoma 3
neurotoxicity 3
oxides - administration & dosage 3
parkinsonian disorders - drug therapy - genetics 3
pedigree 3
periaqueductal gray - pathology 3
polymorphism, genetic 3
remission induction 3
rett syndrome - diagnosis - genetics 3
salvage therapy 3
selegiline - therapeutic use 3
silver poisoning / intoxication 3
tretinoin - therapeutic use 3
tyrosine 3-monooxygenase - deficiency - genetics 3
6-pyruvoyl-tetrahydropterin synthase deficiency 2
acids - urine 2
acute disease 2
acute leukemia 2
adenocarcinoma - chemically induced 2
adenosinetriphosphatase/genetics 2
aged, 80 and over 2
alanine - genetics 2
alkaline phosphatase 2
alleles 2
amino acids - blood 2
amyloid 2
amyloid neuropathies - genetics 2
antineoplastic agents - administration & dosage - blood - therapeutic use 2
area under curve 2
arsenic trioxide 2
arsenicals - administration & dosage - blood - therapeutic use 2
arsenicals - adverse effects - therapeutic use 2
asian continental ancestry group -genetics 2
autistic disorder - genetics 2
autoantibodies/genetics/immunology 2
biological availability 2
carbohydrate 2
carnitine - analogs & derivatives - blood 2
carnitine - analogs & derivatives - metabolism 2
carnitine o-palmitoyltransferase - genetics - metabolism 2
cdc73 mutations 2
ceruloplasmin 2
chronic hepatitis b 2
codon, nonsense 2
colonic carcinoma 2
colonic neoplasms - chemically induced 2
copper/metabolism 2
coxsackie virus 2
diabetes mellitus, type 2 - genetics 2
diagnostic errors 2
disease progression 2
dna, mitochondrial - chemistry - genetics 2
dystonia/diagnosis/genetics/physiopathology 2
encephalitis, viral - complications - enzymology - genetics 2
enzyme stability 2
epilepsies 2
familial amyloidotic polyneuropathy 2
family health 2
fatal outcome 2
febrile 2
gaba agonists/therapeutic use 2
gamma-aminobutyric acid/metabolism 2
gene expression profiling 2
gene expression regulation, neoplastic 2
gene silencing 2
genetic predisposition to disease - genetics 2
genetic predisposition to disease/*genetics 2
genetic screening 2
genetic testing 2
glucuronosyltransferase - genetics 2
glutamate decarboxylase/immunology 2
glycemic load 2
growth inhibitors - adverse effects - therapeutic use 2
h1n1 human swine influenza 2
health knowledge, attitudes, practice 2
hepatolenticular degeneration 2
hepatolenticular degeneration - blood - diagnosis - genetics 2
hereditary hyperparathyroidism 2
heterozygote 2
hong kong - epidemiology 2
hong-kong chinese 2
host genetic risk factor 2
hyperbilirubinemia - chemically induced - genetics - metabolism 2
hyperparathyroidism- jaw tumor syndrome 2
hyperphenylalaninemia 2
hypophosphatasia 2
id2 2
influenza, human - complications 2
influenza-associated encephalopathy 2
infusions, intravenous 2
inhibin-beta subunits - genetics - metabolism 2
inhibitor of differentiation protein 2 - genetics - metabolism 2
leukemia, myelogenous, chronic, bcr-abl positive - drug therapy - genetics - metabolism 2
leukemia, myeloid - blood - drug therapy 2
leukemia, promyelocytic, acute - drug therapy 2
liver diseases 2
metabolism, inborn errors - blood - diagnosis - epidemiology - urine 2
metabolism, inborn errors - diagnosis 2
microarray 2
models, molecular 2
molecular chaperones/*genetics 2
molecular sequence data 2
muscle spasticity/diagnosis/genetics/physiopathology 2
muscle, skeletal/innervation/*physiopathology 2
mutation/*genetics 2
myoclonic 2
nasopharyngeal neoplasms - chemically induced 2
nasopharyngeal neoplasms - genetics - metabolism 2
neonatal screening - methods 2
neonatal screening - organization and administration 2
neoplasms - chemically induced 2
nerve tissue proteins 2
newborn screening 2
oligonucleotide array sequence analysis 2
oral bioavailability 2
oxides - administration & dosage - blood - therapeutic use 2
oxides - adverse effects - therapeutic use 2
parathyroid carcinoma 2
parathyroid tumor 2
parents - psychology 2
perinatal lethal form of hypophosphatasia 2
phenylketonuria 2
plasmapheresis 2
point mutation 2
polymerase chain reaction 2
polymerase chain reaction - methods 2
polymorphism, restriction fragment length 2
polyneuropathies - genetics 2
preexercise diet 2
protein-tyrosine kinases - antagonists and inhibitors 2
pyrimidines - adverse effects - pharmacokinetics 2
rassf1a 2
reverse transcriptase polymerase chain reaction 2
risk factors 2
salivary diagnostic 2
seizures 2
sequence analysis, dna 2
signal transduction 2
stiff-person syndrome/diagnosis/*genetics/*physiopathology 2
tandem mass spectrometry 2
temperature 2
thermolabile carnitine palmitoyltransferase ii 2
time factors 2
transfection 2
transthyretin gene 2
tsalp gene 2
tumor cells, cultured 2
tumor markers, biological - genetics - metabolism 2
tumor suppressor 2
tumor suppressor proteins - antagonists & inhibitors - genetics - metabolism 2
valine - genetics 2
vhl gene 2
vhl mutations 2
viral infection-associated encephalopathy 2
von hippel-lindau disease - genetics 2
von hippel-lindau syndrome 2
von hippel-lindau tumor suppressor protein - genetics 2
*mutation 1
3' untranslated regions - genetics 1
3-hydroxybutyric acid - blood 1
3-iodobenzylguanidine - diagnostic use 1
abdominal neoplasms - complications - diagnosis - drug therapy - surgery 1
abortion, eugenic 1
acetylcholinesterase - deficiency - genetics 1
acidosis - etiology 1
acidosis, lactic - blood - diagnosis - etiology 1
acyl-coa dehydrogenase, long-chain - blood - deficiency - genetics 1
adenine 1
adenosine deaminase - analysis - metabolism 1
adenosine triphosphatases - genetics 1
adenovirus e1a proteins - genetics - physiology 1
adrenal gland neoplasms - diagnosis - secretion 1
adrenal gland neoplasms - genetics 1
adrenal hyperplasia, congenital 1
adrenal insufficiency - congenital - genetics 1
alanine transaminase - deficiency - genetics - metabolism 1
alcohol oxidoreductases - genetics 1
alcoholism - complications 1
algorithms 1
alkyl 1,1,1-triradicals 1
alkylcyclobutadienes 1
allelic imbalance - genetics 1
allosteric site - genetics 1
alpha-glucosidases - genetics - metabolism 1
alpha-n-acetylglucosaminidase 1
alternative splicing - genetics 1
amino acid metabolism, inborn errors - complications - genetics 1
amino acid metabolism, inborn errors - diagnosis - urine 1
amino acid substitution - genetics 1
amino acid transport systems, basic - genetics 1
amino acid transport systems, neutral - genetics 1
aminopeptidases 1
analytical chemistry 1
anemia, sideroblastic - complications 1
animals 1
antibodies, viral - isolation & purification 1
anticonvulsants - adverse effects 1
anticonvulsants - therapeutic use 1
antifungal agents - adverse effects 1
antigens, cd34 - blood 1
antiporters 1
antiporters - genetics 1
aorta - chemistry - metabolism 1
aortic diseases - genetics 1
apnea 1
apolipoprotein c-ii 1
apolipoproteins c - deficiency - genetics 1
aromatic-l-amino-acid decarboxylases - deficiency - urine 1
arthritis, gouty - diagnosis - enzymology - genetics 1
asian continental ancestry group - ethnology 1
asian continental ancestry group - ethnology - genetics 1
atp-binding cassette transporters - genetics 1
atp2c1 1
autoanalysis 1
autoanalysis - instrumentation 1
automation 1
azacitidine - pharmacology 1
basal cell nevus syndrome - genetics 1
bence jones protein - urine 1
bile pigments - analysis 1
biopsy 1
biosensing techniques - standards 1
blood glucose - metabolism 1
body fluids - enzymology - microbiology 1
bone marrow cells - pathology 1
brain - blood supply - pathology 1
brain - pathology 1
brain diseases - blood - diagnosis - etiology 1
brazil 1
bronchial neoplasms - genetics 1
butyrylcholinesterase - deficiency - genetics 1
calcitriol - therapeutic use 1
calcium-binding proteins - genetics - metabolism 1
calcium-sensing 1
calcium-transporting atpases - genetics 1
carbidopa - therapeutic use 1
carcinoid tumor - genetics 1
carcinoma - blood - diagnosis - genetics - mortality 1
carcinoma, basal cell - genetics 1
carcinoma, non-small-cell lung - diagnosis - secondary - secretion 1
carcinoma, renal cell - genetics 1
cardiomyopathy, dilated - genetics 1
cardiomyopathy, hypertrophic - genetics 1
cardiovascular system - metabolism 1
carnitine acyltransferases - deficiency - genetics 1
carrier proteins - genetics 1
carrier state - virology 1
case report 1
case-control studies 1
catalysis 1
cataract 1
cation transport proteins - genetics 1
cdc25b gene 1
cdna microarray 1
cell cycle 1
cell division - genetics 1
cell line 1
cell line, tumor 1
cell proliferation - drug effects 1
cells, cultured 1
centrosome 1
cercopithecus aethiops 1
cerebral infarction - genetics - pathology 1
ceruloplasmin - analysis 1
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cervical intraepithelial neoplasia - epidemiology - virology 1
cheek 1
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china 1
china - ethnology 1
chloride channels - genetics 1
cholestasis, intrahepatic - genetics - metabolism 1
choline o-acetyltransferase - genetics 1
chorionic villi sampling 1
chromatography 1
chromatography, high pressure liquid 1
chromatography, high pressure liquid - methods 1
chromatography, thin layer 1
chromosome aberrations - genetics 1
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chromosome mapping 1
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chromosomes, human - genetics 1
chromosomes, human, pair 3 - genetics 1
chromosomes, human, pair 7 1
chromosomes, human, x - genetics 1
circadian rhythm - physiology 1
circulating fluorescent red cells 1
clinical whole-exome sequencing 1
clonazepam - therapeutic use 1
codon 1
coenzymes - deficiency - genetics 1
collaboration model 1
collagen - genetics 1
colony-forming units assay 1
common mutation 1
communicable diseases, emerging - epidemiology - physiopathology - virology 1
computer peripherals 1
consanguinity 1
copper - blood - metabolism - urine 1
coq4 1
coronary artery disease - genetics - physiopathology 1
coronavirus - isolation & purification 1
cos cells - chemistry - metabolism 1
cost-benefit analysis 1
creatinine - blood 1
cross reactions 1
cross-over studies 1
cysteine - genetics 1
cystine - metabolism 1
cystinuria - genetics 1
cytogenetic analysis - methods 1
cytokines - blood 1
cytosine 1
databases, nucleic acid 1
databases, protein 1
dax-1 orphan nuclear receptor 1
death, sudden, cardiac - etiology 1
deoxyribonucleases, type ii site-specific 1
developmental disabilities - diagnosis - genetics 1
diabetes mellitus - congenital - drug therapy - genetics 1
diabetes mellitus - genetics - pathology 1
diabetes mellitus, type 2 - blood - complications - enzymology - genetics 1
diabetes mellitus, type 2 - complications - genetics 1
diabetic ketoacidosis - diagnosis 1
diagnosis, differential 1
diagnostic pitfalls 1
dietary carbohydrates - administration & dosage - classification - metabolism 1
dietary carbohydrates - administration & dosage - metabolism 1
dietary carbohydrates - administration & dosage - pharmacology 1
dihydrouracil dehydrogenase (nadp) 1
dipeptidyl-peptidases and tripeptidyl-peptidases 1
disease outbreaks 1
disorders of sex development - genetics 1
dna 1
dna - analysis 1
dna - chemistry - genetics 1
dna - genetics 1
dna methylation 1
dna mutational analysis - economics - methods 1
dna primers 1
dna, complementary 1
dna, complementary - analysis - genetics 1
dna, complementary - genetics 1
dna, mitochondrial - analysis 1
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dna, mitochondrial - genetics 1
dolphins 1
dopamine - secretion 1
drug combinations 1
dtymk 1
dystonia 1
dystonia - diagnosis - genetics 1
dystonia musculorum deformans/drug therapy/*genetics/radionuclide imaging 1
dystonic disorders - diagnosis - drug therapy - genetics 1
dyt1 gene 1
early phase clinical study 1
electrolytes - administration & dosage - metabolism 1
electromyography 1
electron transport complex iv - drug effects 1
electrophoresis 1
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electrophoresis, capillary 1
electrophoresis, polyacrylamide gel 1
encephalomalacia - enzymology - etiology - genetics - pathology 1
encephalopathy 1
endopeptidases 1
energy intake - physiology 1
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ephedrine - therapeutic use 1
epilepsy 1
epinephrine - urine 1
epithelial cells - ultrastructure 1
erythrocytes - enzymology 1
erythrocytes - metabolism 1
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ethnic groups - genetics 1
exercise - physiology 1
exercise test 1
exonic splicing variant 1
exons 1
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expressed sequence tags 1
exudates and transudates - chemistry 1
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fabry disease - complications - genetics - pathology 1
false negative reactions 1
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familial benign chronic pemphigus 1
family 1
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feeding behavior - physiology 1
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fetal blood 1
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fibroblasts - enzymology 1
filamin c 1
filaminopathy 1
filgrastim - therapeutic use 1
flavoproteins 1
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fluorescent dyes 1
fluorescent dyes - metabolism 1
follow-up studies 1
founder effect 1
frameshift mutation 1
free fatty acids 1
g-csf 1
g6pt1 1
gait - drug effects 1
galactorrhea - diagnosis - genetics 1
galactosemias - diagnosis - genetics 1
gas chromatography-mass spectrometry 1
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gene expression regulation 1
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gene library 1
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genetic variation 1
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genome, human 1
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genome-wide association study - methods 1
genomics - methods 1
germ-line mutation 1
globins - analysis - genetics 1
glucose 1
glucose-6-phosphatase - genetics 1
glutamate dehydrogenase - genetics 1
glyburide - therapeutic use 1
glycaemic index 1
glycine - genetics 1
glycogen debranching enzyme 1
glycogen storage disease - enzymology - genetics 1
glycogen storage disease type 1b 1
glycogen storage disease type i - diagnosis - drug therapy - genetics 1
glycogen storage disease type i - diagnosis - genetics 1
glycogen storage disease type i - enzymology - genetics 1
glycogen storage disease type i - epidemiology - ethnology - genetics 1
glycogen storage disease type i - genetics 1
glycogen storage disease type ib 1
glycogen storage disease type ii - diagnosis - genetics 1
glycogen storage disease type iii 1
graft survival 1
gsd 1b 1
gtp cyclohydrolase - genetics 1
guanine 1
hailey-hailey disease 1
hair follicle - chemistry 1
head and neck neoplasms - genetics 1
hedgehog proteins 1
hematopoietic stem cell transplantation - methods 1
hepatolenticular degeneration - complications - diagnosis - genetics 1
hepatolenticular degeneration - diagnosis - genetics 1
hepatolenticular degeneration - diagnosis - genetics - therapy 1
hepatolenticular degeneration -- china -- hong kong. 1
herpesvirus 4, human - genetics - metabolism 1
herpesvirus 7, human - genetics 1
heterozygote detection 1
hla antigens - genetics 1
homocysteine - blood 1
homocystinuria - diagnosis - genetics 1
homozygote 1
homozygous variegate porphyria 1
hong kong - ethnology 1
hydrocarbons, chlorinated - blood - chemistry 1
hydrops fetalis - etiology 1
hydroxymethylbilane synthase - blood 1
hydroxymethylbilane synthase - genetics 1
hydroxypyruvate reductase 1
hyperammonemia - etiology - genetics 1
hypercalcemia - genetics 1
hyperglycemia - genetics 1
hyperinsulinism - etiology - genetics 1
hyperlipoproteinemia type i - blood - enzymology - genetics 1
hyperlipoproteinemia type i - enzymology - genetics 1
hyperoxaluria - genetics 1
hyperparathyroidism - genetics 1
hyperprolactinemia - diagnosis - genetics 1
hypertension - etiology 1
hypertriglyceridemia - blood - complications - enzymology - genetics 1
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hypertriglyceridemia - complications - enzymology - genetics 1
hypocalcemia 1
hypocalcemia - drug therapy - etiology - genetics 1
hypoglycemic agents - therapeutic use 1
hypoparathyroidism 1
hypoxanthine phosphoribosyltransferase - genetics 1
iduronate sulfatase - chemistry - genetics - metabolism 1
immunoassay 1
immunoglobulin d - analysis 1
immunoglobulin e - blood 1
immunoglobulin epsilon-chains - immunology 1
indel mutation 1
infant, newborn, diseases - enzymology - etiology - genetics - pathology 1
inpatients 1
insulin 1
insulin - blood 1
insulin - therapeutic use 1
intellectual disability - genetics 1
intellectual disability - genetics - physiopathology 1
intracellular signaling peptides and proteins 1
introns 1
iodine radioisotopes - diagnostic use 1
ion channels - physiology 1
islets of langerhans - metabolism - pathology 1
isomer enumeration 1
isotopes 1
isovaleryl-coa dehydrogenase 1
italy 1
japan 1
japan - epidemiology 1
ketoconazole - adverse effects 1
ketosis - etiology 1
kidney calculi - blood - genetics 1
kidney calculi - genetics 1
kidney diseases - genetics - metabolism 1
kidney failure, chronic - diagnosis - immunology 1
kidney failure, chronic - genetics - therapy 1
kidney function tests 1
kidney glomerulus - pathology - ultrastructure 1
kidney transplantation 1
lactic acid - blood 1
leigh disease 1
leigh disease - diagnosis - genetics - pathology 1
leucine - genetics 1
leukocyte count 1
leukocytes - drug effects - immunology 1
leukocytes - enzymology 1
ligands 1
limit of detection 1
lipid metabolism, inborn errors - diagnosis - genetics - prevention and control 1
lipids - blood 1
lipoprotein lipase - biosynthesis - blood - chemistry - genetics 1
lipoprotein lipase - deficiency - genetics 1
lipoprotein lipase - genetics 1
lipoprotein lipase - genetics - metabolism 1
lipoproteins - genetics 1
liver failure, acute - diagnosis - enzymology - etiology 1
liver failure, acute - diagnosis - etiology - genetics 1
logistic models 1
long qt syndrome - chemically induced 1
lung neoplasms - diagnosis - secondary - secretion 1
lymphocyte activation - drug effects 1
macaca mulatta 1
male runners 1
mass screening - methods 1
mass spectrometry - methods 1
melas syndrome 1
melas syndrome - chemically induced - diagnosis - genetics 1
melas syndrome - genetics - pathology 1
membrane proteins - genetics 1
membrane proteins - genetics - metabolism 1
metabolic syndrome x - genetics - metabolism 1
metabolism, inborn errors - diagnosis - genetics - urine 1
metabolism, inborn errors - diagnosis - metabolism 1
metabolism, inborn errors - enzymology - genetics 1
metalloproteins - deficiency - genetics 1
metapneumovirus - immunology - isolation & purification 1
methylmalonic acid - urine 1
mice 1
mice, inbred balb c 1
mice, nude 1
mice, transgenic 1
microarray analysis - methods 1
microsatellite repeats 1
microscopy, electron, scanning 1
minigene 1
missense 1
mitochondria - chemistry 1
mitochondrial diseases 1
mitochondrial diseases - diagnosis - genetics - prevention and control 1
mitochondrial dna depletion syndrome 1
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mitochondrial proteins 1
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molecular biology - methods 1
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molecular epidemiology 1
molecular weight 1
monosaccharide transport proteins 1
monosaccharide transport proteins - genetics 1
mouth mucosa - chemistry 1
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mucolipidoses - diagnosis 1
mucopolysaccharidosis ii - etiology - genetics 1
mucopolysaccharidosis iv - genetics 1
mucopolysaccharidosis vi - diagnosis 1
mucopolysaccharidosis vi - therapy 1
multiple acyl coenzyme a dehydrogenase deficiency - diagnosis - pathology 1
multiple myeloma - complications - immunology - urine 1
multiple myeloma - diagnosis 1
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multivariate analysis 1
muscle hypotonia - diagnosis - drug therapy - genetics 1
muscle proteins - genetics 1
muscle weakness - diagnosis - drug therapy - genetics 1
muscular diseases - diagnosis - genetics - prevention and control 1
mutagenesis, insertional 1
mutagenesis, site-directed 1
mutation - genetics 1
mutation analysis 1
mutation, missense 1
mutation, missense - genetics 1
myasthenic syndromes, congenital - complications - diagnosis - enzymology 1
myocardium - chemistry - metabolism 1
n-acetylgalactosamine-4-sulfatase - blood 1
n-acetylgalactosamine-4-sulfatase - genetics 1
nadh dehydrogenase - genetics 1
narcolepsy - ethnology - genetics 1
nasopharyngeal neoplasms - blood - diagnosis - genetics - mortality 1
nasopharyngeal neoplasms - genetics - metabolism - pathology 1
nasopharynx - metabolism - pathology 1
neonatal screening 1
neoplasm invasiveness 1
neoplasm proteins - genetics 1
neurologic examination 1
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neutropenia 1
norepinephrine - urine 1
normalization 1
nuclear family 1
nucleic acid conformation 1
nucleic acid denaturation 1
nucleic acid heteroduplexes - analysis 1
nucleic acid hybridization 1
nutritional physiological phenomena - immunology - physiology 1
odds ratio 1
oligonucleotide array sequence analysis - methods - standards 1
oligonucleotide array sequence analysis - methods - statistics & numerical data 1
oncogene proteins - genetics 1
oncogene proteins, viral - genetics 1
oncogenes 1
organic anion transporters - genetics 1
organic cation transport proteins - genetics 1
organic chemicals 1
osteopetrosis - diagnosis - genetics 1
oxidation-reduction 1
oxidative phosphorylation - drug effects 1
oxidoreductases - deficiency - genetics 1
oxidoreductases - genetics 1
oxidoreductases acting on ch-ch group donors 1
oxidoreductases acting on sulfur group donors - deficiency - genetics 1
oxygen consumption 1
pancreatic diseases - complications 1
pantothenate kinase-associated neurodegeneration - diagnosis - ethnology 1
pantothenate kinase-associated neurodegeneration - genetics 1
papillomaviridae - classification - genetics 1
papillomaviridae - genetics - isolation & purification 1
papillomavirus e7 proteins 1
papillomavirus infections - complications - epidemiology - virology 1
papillomavirus infections - epidemiology - virology 1
paraganglioma - diagnosis - secretion 1
paraganglioma - genetics 1
paraganglioma, extra-adrenal - complications - diagnosis - drug therapy - surgery 1
paraganglioma, extra-adrenal - genetics 1
paraproteinemias - diagnosis 1
parkinson disease - complications - ethnology - genetics 1
parkinsonian disorders - diagnosis - ethnology 1
pathology, molecular - methods 1
pemphigus, benign familial - epidemiology - ethnology - genetics 1
penetrance 1
peptide hydrolases - genetics 1
phenotype 1
phosphotransferases (alcohol group acceptor) - genetics 1
phosphotransferases - deficiency - genetics 1
phosphotransferases - genetics 1
physical endurance - drug effects - physiology 1
physical endurance - immunology - physiology 1
physical endurance - physiology 1
pilot projects 1
pleura - enzymology - microbiology 1
pleural effusion - blood - classification 1
pleural effusion - chemistry - classification 1
pleural effusion - classification - diagnosis - etiology 1
point-of-care systems - standards 1
polymorphism, single nucleotide 1
polymorphism, single nucleotide - genetics 1
polymorphism, single-stranded conformational 1
polysomnography 1
population surveillance 1
porphyria 1
porphyria cutanea tarda - diagnosis 1
porphyria, acute intermittent - blood - enzymology - genetics - pathology 1
porphyria, acute intermittent - enzymology - genetics 1
porphyria, acute intermittent - genetics 1
porphyrias - metabolism 1
porphyrins - analysis 1
porphyrins - analysis - urine 1
positron emission tomography 1
positron-emission tomography 1
postprandial period - physiology 1
potassium - blood 1
ppox 1
precision medication 1
predictive value of tests 1
pregnancy 1
pregnancy complications - etiology 1
pregnancy complications, neoplastic - diagnosis 1
prenatal diagnosis 1
prenatal diagnosis - methods 1
prevalence 1
prognosis 1
proline - genetics 1
prospective studies 1
protein biosynthesis 1
protein conformation 1
protein denaturation 1
protein kinases - genetics 1
protein s - genetics 1
protein s deficiency - complications 1
proteins - analysis 1
proteins - metabolism 1
proteinuria - etiology 1
proto-oncogene proteins b-raf 1
protoporphyria, erythropoietic - blood - epidemiology - pathology 1
protoporphyria, erythropoietic - diagnosis - genetics 1
protoporphyrinogen oxidase 1
protoporphyrins - blood - genetics 1
pteridines 1
purine-pyrimidine metabolism, inborn errors - diagnosis - genetics 1
pyrimidines - metabolism 1
rare diseases - diagnosis - genetics 1
ras proteins - metabolism 1
rats 1
real-time reverse transcription-polymerase chain reaction 1
receptors 1
receptors, calcium-sensing - chemistry - genetics 1
receptors, calcium-sensing - genetics 1
receptors, cell surface 1
receptors, cell surface - chemistry - genetics - physiology 1
receptors, cell surface - genetics 1
receptors, g-protein-coupled 1
receptors, glycine - genetics 1
receptors, retinoic acid - genetics 1
receptors, thyroid hormone - genetics 1
recovery of function - physiology 1
recurrence 1
recurrent infection 1
reference values 1
repressor proteins - genetics 1
reproducibility of results 1
respiration, artificial 1
respiratory insufficiency - diagnosis - enzymology - etiology 1
restriction mapping 1
retrospective studies 1
rett syndrome - genetics 1
rett syndrome - genetics - physiopathology 1
risk 1
rna - analysis 1
rna splice sites - genetics 1
rna splicing 1
rna, ribosomal, 16s - chemistry - genetics 1
rna, ribosomal, 16s - genetics 1
roc curve 1
roseolovirus infections - epidemiology - virology 1
running - physiology 1
ryanodine receptor calcium release channel - genetics 1
salvage pathway 1
sanfilippo disease type b 1
schizophrenia - complications - ethnology - genetics 1
seizures - complications - etiology 1
seizures - etiology 1
sequence analysis, dna - methods 1
sequence deletion 1
sequence homology, nucleic acid 1
serine proteases 1
severe acute respiratory syndrome - epidemiology - physiopathology - virology 1
severity of illness index 1
sex factors 1
siblings 1
sitosterols - blood 1
skin neoplasms - genetics 1
sleep stages - physiology 1
sodium - blood 1
spasticity 1
spinal cord compression - etiology 1
srd5a2 1
steroid 17-alpha-hydroxylase - genetics 1
steroid 5α-reductase 2 deficiency 1
stiff-person syndrome - diagnosis - drug therapy - genetics 1
strategic collaboration 1
succinate dehydrogenase - deficiency - genetics 1
succinate dehydrogenase - genetics 1
sudden infant death - genetics 1
sulfite oxidase - deficiency 1
sulfite oxidase - deficiency - genetics 1
synaptic transmission - genetics 1
syncope - etiology 1
syndrome 1
tachycardia, ventricular - genetics 1
terminology as topic 1
threonine - genetics 1
thymine 1
thymine - urine 1
thyroid hormone receptors beta 1
thyroid hormone receptors beta - genetics - metabolism 1
thyroid hormone resistance syndrome 1
thyroid hormone resistance syndrome - diagnosis - genetics 1
thyroid hormone resistance syndrome - drug therapy - genetics 1
thyroid hormones - genetics - metabolism 1
thyrotropin 1
tomography, x-ray computed 1
torsades de pointes - chemically induced - genetics 1
tpk1 1
trans-activators 1
transaminases - genetics 1
transcription, genetic 1
transduction, genetic 1
translational medicine 1
transplantation chimera - blood 1
treadmill running 1
tremor 1
triclosan - blood - chemistry 1
triiodothyronine - analogs & derivatives - therapeutic use 1
tuberculosis, pleural - diagnosis - enzymology - microbiology 1
tumor suppressor proteins 1
tumor suppressor proteins - genetics - metabolism 1
tumor virus infections - complications - epidemiology - virology 1
tumor virus infections - epidemiology - virology 1
turkey 1
tyrosine 3-monooxygenase - genetics 1
ubiquitin-protein ligases - genetics 1
ultraviolet rays 1
uracil - urine 1
uric acid - metabolism 1
urine - cytology 1
urobilin - analysis 1
uterine cervical neoplasms - epidemiology - pathology - virology 1
uterine cervical neoplasms - epidemiology - virology 1
vacuolar proton-translocating atpases - genetics 1
valproic acid - adverse effects - pharmacology 1
viral envelope proteins - genetics 1
water-electrolyte balance - physiology 1
x chromosome - genetics 1
xenograft model antitumor assays 1
xeroderma pigmentosum - diagnosis - genetics 1
young adult 1
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