|
interprofessional education |
28 |
|
partnership model |
28 |
|
social interaction anxiety |
28 |
|
chinese |
18 |
|
rare diseases |
15 |
|
child |
14 |
|
humans |
14 |
|
genome sequencing |
13 |
|
adolescent |
12 |
|
adult |
12 |
|
female |
12 |
|
hong kong |
12 |
|
male |
12 |
|
child, preschool |
11 |
|
developmental delay |
10 |
|
dna methylation |
10 |
|
rare disease |
10 |
|
congenital heart disease |
9 |
|
hong kong genome project |
9 |
|
infant |
9 |
|
sle |
9 |
|
whole exome sequencing |
9 |
|
drug regulatory |
8 |
|
dysmorphism |
8 |
|
health equity |
8 |
|
orphan drug policy |
8 |
|
phenotyping |
8 |
|
prenatal exome |
8 |
|
retrospective studies |
8 |
|
treatment access |
8 |
|
variants of unknown clinical significance |
8 |
|
china |
7 |
|
epistasis |
7 |
|
ets1 |
7 |
|
exome sequencing |
7 |
|
founder mutation |
7 |
|
genomic diversity |
7 |
|
il-17 |
7 |
|
long read genome sequencing |
7 |
|
population-based genome project |
7 |
|
precision medicine |
7 |
|
short read genome sequencing |
7 |
|
22q11.2 deletion |
6 |
|
22q11.2 deletion syndrome (22q11.2ds) |
6 |
|
array comparative genomic hybridization |
6 |
|
blood |
6 |
|
cell composition |
6 |
|
cell lineage-specific |
6 |
|
conotruncal anomaly |
6 |
|
lupus |
6 |
|
methylationepic |
6 |
|
paediatric-onset |
6 |
|
pik3ca |
6 |
|
prenatal diagnosis |
6 |
|
alport's syndrome |
5 |
|
bronchiectasis |
5 |
|
chinese children |
5 |
|
clinical genetics and dysmorphology |
5 |
|
cohort studies |
5 |
|
congenital malformations |
5 |
|
cystic fibrosis |
5 |
|
esophageal leiomyoma |
5 |
|
genetic testing |
5 |
|
genetics |
5 |
|
intellectual disability |
5 |
|
medical sciences |
5 |
|
microcephaly |
5 |
|
pediatrics |
5 |
|
somatic mosaicism |
5 |
|
trafficking defects |
5 |
|
*locomotion |
4 |
|
activities of daily living/*classification |
4 |
|
analysis of variance |
4 |
|
anisotropy |
4 |
|
anti-bacterial agents - therapeutic use |
4 |
|
aortic stenosis |
4 |
|
array comparative genomic hybridization (acgh) |
4 |
|
autism spectrum disorder (asd) |
4 |
|
autoimmune diseases |
4 |
|
autoimmune diseases - epidemiology - ethnology |
4 |
|
bacterial infections - epidemiology - ethnology |
4 |
|
case-control studies |
4 |
|
cerebral palsy/*diagnosis/epidemiology/rehabilitation |
4 |
|
chemicals and cas registry numbers |
4 |
|
children |
4 |
|
chromosomal microarray |
4 |
|
chromosome 17p13.3 |
4 |
|
chromosome aberration |
4 |
|
chromosome15q13.3 deletion |
4 |
|
clinical genetics |
4 |
|
copy number variations (cnvs) |
4 |
|
cross-sectional studies |
4 |
|
culture |
4 |
|
diffusion magnetic resonance imaging |
4 |
|
diffusion tensor magnetic resonance imaging |
4 |
|
disability evaluation |
4 |
|
dpp10 |
4 |
|
genetic counseling |
4 |
|
hand - physiopathology |
4 |
|
hong kong/epidemiology |
4 |
|
hospitalization - statistics & numerical data |
4 |
|
immunodeficiency |
4 |
|
immunoglobulins |
4 |
|
imprinting |
4 |
|
infarction, middle cerebral artery - complications - diagnosis - physiopathology |
4 |
|
internal capsule - pathology |
4 |
|
klebsiella infections - complications - drug therapy - epidemiology |
4 |
|
klebsiella pneumoniae - drug effects |
4 |
|
mental retardation/*diagnosis/epidemiology |
4 |
|
mesencephalon - pathology |
4 |
|
microduplication |
4 |
|
movement |
4 |
|
nervous system - physiopathology |
4 |
|
neurologic examination/*statistics & numerical data |
4 |
|
neuromotor outcome |
4 |
|
neutropenia |
4 |
|
neutropenia - epidemiology - ethnology |
4 |
|
pacs1 variant |
4 |
|
paediatric infarction |
4 |
|
paresis - etiology - physiopathology |
4 |
|
paternal upd |
4 |
|
prader-willi syndrome |
4 |
|
prevalence |
4 |
|
pulmonary interstitial glycogenosis |
4 |
|
pyramidal tracts - pathology |
4 |
|
risk factors |
4 |
|
schuurs‐hoeijmakers syndrome |
4 |
|
self care/classification/*statistics & numerical data |
4 |
|
sensitivity and specificity |
4 |
|
statistics as topic |
4 |
|
stroke |
4 |
|
thalassemia - complications |
4 |
|
uniparental sisomy |
4 |
|
upd19 |
4 |
|
wallerian degeneration |
4 |
|
wallerian degeneration - diagnosis - etiology |
4 |
|
whole genome sequencing |
4 |
|
wiskott-aldrich syndrome |
4 |
|
*asian continental ancestry group |
3 |
|
17p13.3 copy number gain |
3 |
|
agenesis of the corpus callosum |
3 |
|
amino acid conservation |
3 |
|
amino acid sequence |
3 |
|
array cgh |
3 |
|
autism |
3 |
|
autism spectrum disorder |
3 |
|
autosome translocation |
3 |
|
breastfeeding |
3 |
|
catheterization, central venous |
3 |
|
central venous catheter blockage |
3 |
|
challenging variants |
3 |
|
charge syndrome |
3 |
|
chkb |
3 |
|
coding mutation |
3 |
|
coffin-siris syndrome |
3 |
|
cost effectiveness analysis |
3 |
|
cost saving |
3 |
|
craniofacial defects |
3 |
|
cultural awareness |
3 |
|
discourse analysis |
3 |
|
dna mutational analysis |
3 |
|
drug-exposed infants |
3 |
|
early-onset bronchiectasis |
3 |
|
elongation factor tu gtp-binding domain containing 2 |
3 |
|
empirical data |
3 |
|
evolutionary distance |
3 |
|
facial dysostosis |
3 |
|
fbn1 |
3 |
|
functional impact |
3 |
|
functional independence measure for children |
3 |
|
genetic counseling and training |
3 |
|
genome |
3 |
|
genome-wide dna methylation microarray |
3 |
|
giant mitochondria |
3 |
|
haematopoietic stem cell transplant |
3 |
|
health professionals |
3 |
|
health-related quality of life |
3 |
|
hereditary cancer |
3 |
|
heterotaxy syndrome |
3 |
|
high-speed video microscopy |
3 |
|
infant, newborn |
3 |
|
information provision |
3 |
|
inherited thrombophilic factors |
3 |
|
integrated approach |
3 |
|
klhl40 |
3 |
|
kw029 - clinical history |
3 |
|
kw042 - diagnostics |
3 |
|
kw046 - dysmorphology |
3 |
|
kw085 - haplotype |
3 |
|
kw141 - population genetics |
3 |
|
kw154 - respiratory system |
3 |
|
kw158 - skeletal system |
3 |
|
kw160 - snp analysis/discovery |
3 |
|
lactation |
3 |
|
macrocephaly |
3 |
|
magnetic resonance imaging |
3 |
|
malignancy |
3 |
|
mandibulofacial dysostosis type guion-almeida |
3 |
|
mandibulofacial dysostosis with microcephaly |
3 |
|
marfan syndrome |
3 |
|
marfan syndrome - genetics |
3 |
|
megaconial cmd |
3 |
|
megaconial congenital muscular dystrophy |
3 |
|
megalencephaly |
3 |
|
microdeletion |
3 |
|
microfilament proteins - genetics |
3 |
|
middle aged |
3 |
|
minor anomalies |
3 |
|
mitochondrial diseases |
3 |
|
molecular sequence data |
3 |
|
morphogenesis |
3 |
|
mtor |
3 |
|
muscle biopsy |
3 |
|
mutation screening |
3 |
|
mutation, missense |
3 |
|
nemaline myopathy |
3 |
|
neoplasms - metabolism - therapy |
3 |
|
neuromuscular disorders |
3 |
|
non-coding variants |
3 |
|
nssnp |
3 |
|
parental decisions |
3 |
|
patient experience |
3 |
|
pediatric‐onset |
3 |
|
phenotype |
3 |
|
pik3ca-related overgrowth spectrum |
3 |
|
ppp2r5d |
3 |
|
pregnancy termination |
3 |
|
prenatal test |
3 |
|
primary ciliary dyskinesia |
3 |
|
program evaluation |
3 |
|
protein-serine-threonine kinases - genetics |
3 |
|
pseudogenes |
3 |
|
pten |
3 |
|
rapid |
3 |
|
receptors, transforming growth factor beta - genetics |
3 |
|
references (11) view in table layout |
3 |
|
repeat expansions |
3 |
|
satisfaction |
3 |
|
sequence homology, amino acid |
3 |
|
sex chromosome aneuploidy |
3 |
|
social behavior |
3 |
|
spinal muscular atrophy |
3 |
|
split hand malformation |
3 |
|
structural variants |
3 |
|
syndrome |
3 |
|
teratology |
3 |
|
tgfbr2 |
3 |
|
thrombophilia - metabolism |
3 |
|
transmission electron microscopy |
3 |
|
whole‐exome sequencing |
3 |
|
x |
3 |
|
x chromosome inactivation |
3 |
|
young adult |
3 |
|
*attitude to health |
2 |
|
*awareness |
2 |
|
*public opinion |
2 |
|
*questionnaires |
2 |
|
adenoviridae infections - complications |
2 |
|
age of onset |
2 |
|
amplatzer septal occluder |
2 |
|
anticonvulsants/*adverse effects |
2 |
|
asia |
2 |
|
attention |
2 |
|
autistic disorder/*diagnosis |
2 |
|
balanced chromosomal abnormalities |
2 |
|
beckwith-wiedemann syndrome |
2 |
|
brain - pathology |
2 |
|
brain diseases, metabolic - diagnosis - genetics |
2 |
|
brain edema/epidemiology/virology |
2 |
|
brain mri |
2 |
|
brain stem - pathology |
2 |
|
carbamazepine/*adverse effects |
2 |
|
cardiovascular disease |
2 |
|
cerebellum |
2 |
|
china/ethnology |
2 |
|
chromosome microarray |
2 |
|
chronic health conditions |
2 |
|
cilia |
2 |
|
clinical assessment |
2 |
|
coffin–lowry syndrome |
2 |
|
collaborative research |
2 |
|
communicable diseases |
2 |
|
communication research |
2 |
|
congenital disorders |
2 |
|
congenital hyperinsulinism |
2 |
|
copy number variation |
2 |
|
cost-benefit analysis |
2 |
|
covid-19 |
2 |
|
craniofacial development |
2 |
|
cross-cultural comparison |
2 |
|
csnk2a1 |
2 |
|
cultural diversity |
2 |
|
data collection |
2 |
|
de novo mutation |
2 |
|
deletion |
2 |
|
developmental delay (dd) |
2 |
|
dna-binding proteins/*genetics |
2 |
|
down syndrome |
2 |
|
droplet digital pcr |
2 |
|
dynein cytoplasmic 1 heavy chain 1 (dync1h1) gene |
2 |
|
empirical research |
2 |
|
encephalitis, viral/epidemiology/etiology |
2 |
|
epidermal necrolysis, toxic/*drug therapy/*etiology |
2 |
|
epigenetics |
2 |
|
epilepsy |
2 |
|
epilepsy/ethnology/*psychology |
2 |
|
evidence based |
2 |
|
exome |
2 |
|
follow-up studies |
2 |
|
genetic counseling training |
2 |
|
genetic counseling/consultation |
2 |
|
genetic counselling |
2 |
|
global developmental delay |
2 |
|
global developmental delay (gdd) |
2 |
|
glucocorticoids/*administration & dosage |
2 |
|
gonadal mosaicism |
2 |
|
gonosomal mosaicism |
2 |
|
health literacy |
2 |
|
health utility index |
2 |
|
hospitalization |
2 |
|
hyperglycinemia, nonketotic - diagnosis - genetics |
2 |
|
hyperinsulinism |
2 |
|
incidence |
2 |
|
inflation analysis |
2 |
|
influenza, human - complications |
2 |
|
influenza, human/*complications/epidemiology |
2 |
|
infusions, intravenous |
2 |
|
intellectual disability (id) |
2 |
|
isomerism |
2 |
|
karyotype |
2 |
|
kidney |
2 |
|
kw106 - mental retardation |
2 |
|
kw109 - methylation |
2 |
|
kw123 - neurogenetics |
2 |
|
language |
2 |
|
likelihood ratio model |
2 |
|
long qt syndrome |
2 |
|
long read sequencing |
2 |
|
mass screening |
2 |
|
mctt syndrome |
2 |
|
mental retardation (mr) |
2 |
|
methylprednisolone/*administration & dosage |
2 |
|
mn1 |
2 |
|
muscle mri |
2 |
|
mutation analysis |
2 |
|
mutation/*genetics |
2 |
|
myopathies |
2 |
|
nerve fibers, myelinated - pathology |
2 |
|
neurodegeneration |
2 |
|
neurology |
2 |
|
neuromuscular diseases |
2 |
|
okur-chung syndrome |
2 |
|
oral poliomyelitis vaccine |
2 |
|
paediatrics |
2 |
|
parental mosaicism |
2 |
|
partial developmental delay (pardd) |
2 |
|
pediatric |
2 |
|
pediatric‐onset drug‐resistant epilepsy |
2 |
|
phenotypic variability |
2 |
|
play and playthings |
2 |
|
poliomyelitis |
2 |
|
pregnancy |
2 |
|
professional training |
2 |
|
pulse therapy, drug |
2 |
|
rare disease patients |
2 |
|
recurrence |
2 |
|
recurrence risk |
2 |
|
registries |
2 |
|
religion |
2 |
|
renal failure |
2 |
|
respiratory insufficiency/*genetics |
2 |
|
rhombencephalosynapsis |
2 |
|
rps6ka3 |
2 |
|
secundum atrial septal defect |
2 |
|
seizures, febrile - genetics - virology |
2 |
|
seizures, febrile/*epidemiology/ethnology/etiology |
2 |
|
seizures, febrile/epidemiology/*virology |
2 |
|
shdra |
2 |
|
south-east asia |
2 |
|
spinal muscular atrophies of childhood/complications/*diagnosis/*genetics |
2 |
|
spinal muscular atrophy with lower extremity predominance (smaled) |
2 |
|
spinocerebellar ataxia |
2 |
|
stroke/*ethnology/etiology |
2 |
|
structural heart defects and renal anomalies syndrome |
2 |
|
tgm6 |
2 |
|
tmem260 |
2 |
|
transcatheter closure |
2 |
|
transcription factors/*genetics |
2 |
|
truncus arteriosus |
2 |
|
united states/epidemiology |
2 |
|
upd11 |
2 |
|
vaccine-associated paralytic poliomyelitis |
2 |
|
variant classification |
2 |
|
virus diseases - complications |
2 |
|
vus |
2 |
|
was |
2 |
|
wasp |
2 |
|
zebrafish |
2 |
|
22q11.2 deletion syndrome |
1 |
|
2q23.1 microduplication |
1 |
|
9q34.3 deletion |
1 |
|
ablepharon-macrostomia syndrome |
1 |
|
abnormalities, multiple - diagnosis - genetics |
1 |
|
abnormalities, multiple - genetics - pathology |
1 |
|
acromelic dysplasia |
1 |
|
acromicric dysplasia |
1 |
|
acvr1 |
1 |
|
africa |
1 |
|
agenesis of corpus callosum (acc) |
1 |
|
albright syndrome |
1 |
|
alms1 |
1 |
|
alstrom syndrome |
1 |
|
alternative splicing |
1 |
|
alu repetitive elements |
1 |
|
amniotic bands |
1 |
|
anthropometric |
1 |
|
arcl2 |
1 |
|
arid1b |
1 |
|
array-cgh |
1 |
|
arthrogryposis multiplex congenita |
1 |
|
asia pacific |
1 |
|
asphyxia - diagnosis - genetics |
1 |
|
asphyxiating thoracic dystrophy |
1 |
|
asxl3 |
1 |
|
atp6v1a |
1 |
|
atp6v1e1 |
1 |
|
autism spectrum disorders |
1 |
|
autosomal recessive |
1 |
|
bainbridge-ropers syndrome |
1 |
|
barber-say syndrome |
1 |
|
behavioural |
1 |
|
bias |
1 |
|
biology |
1 |
|
body satisfaction |
1 |
|
bor syndrome |
1 |
|
brachydactyly |
1 |
|
brain development |
1 |
|
brain malformation |
1 |
|
brps |
1 |
|
cancer genomics |
1 |
|
cardiac |
1 |
|
cardiac defects |
1 |
|
cardiofaciocutaneous syndrome |
1 |
|
case report |
1 |
|
case series |
1 |
|
cdg |
1 |
|
cell movement |
1 |
|
cell type |
1 |
|
cellular trafficking |
1 |
|
cerebellar hypoplasia |
1 |
|
cesarean section - methods |
1 |
|
cgh microarray |
1 |
|
channelopathy |
1 |
|
child development disorders, pervasive - diagnosis - genetics |
1 |
|
child development disorders, pervasive - genetics - pathology - physiopathology |
1 |
|
childhood epilepsy |
1 |
|
chondroitin sulfate |
1 |
|
chromosome |
1 |
|
chromosome 10p11.22 |
1 |
|
chromosome analysis |
1 |
|
chromosome deletion |
1 |
|
chromosome x duplication |
1 |
|
chromosomes, human, pair 16 |
1 |
|
chromosomes, human, pair 2 - genetics |
1 |
|
ciliary motility disorders - diagnosis - genetics |
1 |
|
clinical article |
1 |
|
clinical evaluation |
1 |
|
clinical features |
1 |
|
clinical outcome |
1 |
|
clinical practice guidelines |
1 |
|
cloves syndrome |
1 |
|
club feet |
1 |
|
coenzyme q10 |
1 |
|
coffin–siris syndrome |
1 |
|
cohen‐gibson syndrome |
1 |
|
collagen type 1 |
1 |
|
complex genomic rearrangement |
1 |
|
congenital disorder of glycosylation |
1 |
|
congenital disorders of glycosylation |
1 |
|
congenital heart defects |
1 |
|
conotruncal |
1 |
|
controlled study |
1 |
|
coq10 |
1 |
|
coq10 supplementation |
1 |
|
coq7 |
1 |
|
corneal dystrophy |
1 |
|
corpus callosum |
1 |
|
cortical development |
1 |
|
costello syndrome |
1 |
|
cpap |
1 |
|
ctnnb1 |
1 |
|
cutis laxa |
1 |
|
cyclophilin |
1 |
|
cystic kidneys |
1 |
|
cytoprotection |
1 |
|
cytoskeleton |
1 |
|
dandy-walker malformation |
1 |
|
ddx3x |
1 |
|
developmental and epileptic encephalopathy |
1 |
|
developmental disabilities - genetics - pathology |
1 |
|
diabetes |
1 |
|
diagnostic value |
1 |
|
diaphragm/diagnostic imaging |
1 |
|
digeorge syndrome |
1 |
|
digital droplet pcr |
1 |
|
disease burden |
1 |
|
diverse populations |
1 |
|
diversity |
1 |
|
dna copy number variations - genetics |
1 |
|
dna methylation signature |
1 |
|
dna-binding proteins - genetics |
1 |
|
doxycycline |
1 |
|
dup(x)(p11.22-p11.23) |
1 |
|
ectopia cordis |
1 |
|
education |
1 |
|
eed |
1 |
|
egfr |
1 |
|
ehmt1 |
1 |
|
encephalo-myo-nephro-cardiopathy |
1 |
|
encephalocele |
1 |
|
enoxaparin |
1 |
|
eq-5d |
1 |
|
ethical |
1 |
|
ethnic specific |
1 |
|
europe - ethnology |
1 |
|
excitatory neurons |
1 |
|
excitatory-inhibitory balance |
1 |
|
exomiser |
1 |
|
facial analysis technology |
1 |
|
failure to thrive |
1 |
|
familial exudative vitreoretinopathy |
1 |
|
fetus |
1 |
|
fibrodysplasia ossificans progressiva |
1 |
|
fop |
1 |
|
forehead |
1 |
|
geleophysic dysplasia |
1 |
|
gene burden |
1 |
|
gene deletion |
1 |
|
gene dosage - genetics |
1 |
|
gene duplication |
1 |
|
genes |
1 |
|
genes, ras |
1 |
|
genetic diagnosis |
1 |
|
genetic predisposition to disease - genetics |
1 |
|
genome-wide association study |
1 |
|
genomic equity |
1 |
|
genomic literacy |
1 |
|
genomic medicine |
1 |
|
genomiser |
1 |
|
genotype–phenotype correlation |
1 |
|
glioma |
1 |
|
glycoside |
1 |
|
gnb5 |
1 |
|
golgi apparatus |
1 |
|
growth |
1 |
|
h3k4 methylation |
1 |
|
hand malformations |
1 |
|
health disparities |
1 |
|
helicase |
1 |
|
hemangiopericytoma - blood supply - diagnosis |
1 |
|
hirschsprung disease |
1 |
|
homozygote |
1 |
|
hong kong genome project (hkgp) |
1 |
|
hospital mortality |
1 |
|
hras mutation |
1 |
|
human genetics |
1 |
|
hypertension, renovascular |
1 |
|
hypertrichosis |
1 |
|
hypoplastic left heart |
1 |
|
icd-10 |
1 |
|
immune suppression |
1 |
|
inclusiveness |
1 |
|
infants -- nutrition. |
1 |
|
inpatient cost |
1 |
|
insulin resistance |
1 |
|
intrauterine growth restriction |
1 |
|
introduction |
1 |
|
jeune syndrome |
1 |
|
joubert syndrome |
1 |
|
kdm5c |
1 |
|
kleefstra syndrome |
1 |
|
kmt2a |
1 |
|
kw008 - bioinformatics |
1 |
|
kw021 - characterization of syndromes |
1 |
|
kw032 - congenital anomaly |
1 |
|
kw040 - development |
1 |
|
kw099 - malformation |
1 |
|
kw107 - intellectual and developmental disability |
1 |
|
kw110 - methylation |
1 |
|
kw134 - phenotype |
1 |
|
kw181 - x-linked disease |
1 |
|
laboratory establishment |
1 |
|
latin america |
1 |
|
learning disability |
1 |
|
legal and social implications |
1 |
|
leigh syndrome |
1 |
|
limb anomalies |
1 |
|
lipoatrophy |
1 |
|
lipomatosis/genetics |
1 |
|
loeys-dietz syndrome |
1 |
|
machine learning |
1 |
|
mafb |
1 |
|
mbd5 |
1 |
|
mbd5 gene |
1 |
|
meta-analysis |
1 |
|
metalloproteinase (mmp) |
1 |
|
microdeletion 2q23.1 |
1 |
|
middle east |
1 |
|
mitochondrial disease |
1 |
|
mitochondrial oxidative phosphorylation |
1 |
|
mll1 |
1 |
|
molar tooth sign |
1 |
|
molecular genetics |
1 |
|
mortality |
1 |
|
mosaic |
1 |
|
mosaicism |
1 |
|
movement disorders |
1 |
|
mowat–wilson syndrome |
1 |
|
multicentric carpotarsal osteolysis syndrome |
1 |
|
multiple system atrophy |
1 |
|
mutation |
1 |
|
mutation hotspot |
1 |
|
mutational signatures |
1 |
|
neonatal and paediatric intensive care |
1 |
|
nephropathy |
1 |
|
neurocutaneous syndromes/diagnosis |
1 |
|
neurogenetics and neurodegeneration |
1 |
|
nitric oxide |
1 |
|
nmr |
1 |
|
noonan syndrome |
1 |
|
noonan syndrome with multiple lentigines syndrome |
1 |
|
notch1 |
1 |
|
nucleotide sugar transporter |
1 |
|
nutritional status |
1 |
|
orphacodes |
1 |
|
osteolysis |
1 |
|
overgrowth |
1 |
|
overgrowth syndromes |
1 |
|
pacs1 |
1 |
|
pandemic |
1 |
|
parietal bone - abnormalities - embryology - ultrastructure |
1 |
|
patient perception |
1 |
|
pchm |
1 |
|
personalized medicine |
1 |
|
pharmacogenomics |
1 |
|
physical measurements |
1 |
|
pik3r1 gene |
1 |
|
polycomb repressive complex 2 |
1 |
|
pontocerebellar hypoplasia |
1 |
|
ppil1 |
1 |
|
precision health |
1 |
|
pregnancy -- nutritional aspects. |
1 |
|
proline isomerase |
1 |
|
proto-oncogene |
1 |
|
prp17 |
1 |
|
pseudohypoparathyroidism |
1 |
|
psychiatric genetics |
1 |
|
psychosocial functioning |
1 |
|
ptchd1 |
1 |
|
public awareness |
1 |
|
public health priority |
1 |
|
quadruplication |
1 |
|
radiography, thoracic |
1 |
|
rare disease caregivers |
1 |
|
rare disease organisation |
1 |
|
rasopathies |
1 |
|
rasopathy |
1 |
|
recessive |
1 |
|
recessive disease |
1 |
|
recurrent mutation |
1 |
|
remm |
1 |
|
renal cystic dysplasia |
1 |
|
renal-artery obstruction |
1 |
|
risk factor |
1 |
|
sars |
1 |
|
sequence analysis, dna |
1 |
|
shank3 |
1 |
|
short stature |
1 |
|
short syndrome |
1 |
|
short-read genome sequencing |
1 |
|
signal transduction |
1 |
|
signature |
1 |
|
skeletal abnormalities |
1 |
|
skeletal dysplasia |
1 |
|
snps |
1 |
|
societal cost |
1 |
|
socio-economic burden |
1 |
|
somatic mutation |
1 |
|
special issue |
1 |
|
spike-wave eeg |
1 |
|
spliceosome |
1 |
|
split-hand malformation |
1 |
|
stromelysin |
1 |
|
suz12 |
1 |
|
suz12‐related overgrowth |
1 |
|
syndromic intellectual disability |
1 |
|
syndromic short stature |
1 |
|
tam-spp1 |
1 |
|
tele-genetic counselling |
1 |
|
tele-genetics |
1 |
|
telemedicine |
1 |
|
thematic analysis |
1 |
|
thorax - abnormalities |
1 |
|
tissue inhibitor of metalloproteinase 1 |
1 |
|
tissue inhibitors of metalloproteinase (timp) |
1 |
|
tongue - abnormalities |
1 |
|
training |
1 |
|
transcriptomics |
1 |
|
translational medicine |
1 |
|
treatment |
1 |
|
trichotillomania |
1 |
|
trisomy 21 |
1 |
|
tumor-associated macrophages |
1 |
|
turner |
1 |
|
turner syndrome |
1 |
|
ubiquinone |
1 |
|
udp-galactose |
1 |
|
ulnar neuropathies |
1 |
|
undiagnosed |
1 |
|
utility score |
1 |
|
v-atpase |
1 |
|
vacterl h syndrome |
1 |
|
variant prioritization |
1 |
|
velocardiofacial syndrome |
1 |
|
ventral midline defect |
1 |
|
weaver syndrome |
1 |
|
whole-exome sequencing |
1 |
|
whole-genome sequencing |
1 |
|
williams |
1 |
|
williams–beuren |
1 |
|
wilms tumor |
1 |
|
x chromosome linked disorder |
1 |
|
x-linked |
1 |
|
zeb1 |
1 |
|
zeb2 |
1 |
|
zic3 gene |
1 |
|
临床遗传医师 |
1 |
|
临床遗传学 |
1 |
|
医学遗传学 |
1 |
|
培训 |
1 |
|
培训基地 |
1 |
|
培训计划 |
1 |
|
建议 |
1 |
|
考核认证 |
1 |
|
资格认定 |
1 |
