Browsing by Author Yuen, YP

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Showing results 17 to 31 of 31 < previous 
TitleAuthor(s)Issue DateViews
 
Juvenile-onset glycogen storage disease type II with novel mutations in acid α-glucosidase gene
Journal:Neurology
Lam, CWYuen, YPChan, KYTong, SFLai, CKChow, TCLee, KCChan, YWMartiniuk, F
2003
168
 
Maternally inherited leigh syndrome: An unusual cause of infantile apnea
Journal:Sleep and Breathing
Chau, CSKKwok, KLNg, DKLam, CWTong, SFChan, YWSiu, WKYuen, YP
2010
166
 
Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome
Journal:Clinica Chimica Acta
Lam, CWYuen, YPCheng, WFChan, YWTong, SF
2006
191
 
Molecular basis of von Hippel-Lindau syndrome in Chinese patients
Journal:Chinese Medical Journal
Siu, WKMa, RCWLam, CWMak, CMYuen, YPLo, FMIChan, KWLam, SFLing, SCTong, SFSo, WYChow, CCTang, MHYTam, WHChan, AYW
2011
257
 
Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study
Journal:Clinica Chimica Acta
Lee, HCHLai, CKYau, KCESiu, TSMak, CMYuen, YPChan, KYTam, SLam, CWChan, AYW
2012
173
 
A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia
Journal:Hong Kong Medical Journal
Lee, HHCLee, RSYLai, CKYuen, YPSiu, TSChan, AYWLam, CW
2010
138
 
Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b
Journal:Molecular Genetics and Metabolism
Yuen, YPCheng, WFTong, SFChan, YTChan, YWLam, CW
2002
166
 
Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor
Journal:American Journal of Kidney Diseases
Lam, CWYuen, YPLai, CKTong, SFLau, LKTong, KLChan, YW
2001
149
 
Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia
Journal:Clinica Chimica Acta
Lam, CWCheng, AWFPoon, WTYuen, YPHuen, KF
2006
158
 
Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity
Journal:Clinica Chimica Acta
OnKei Chan, ALam, CWTong, SFMan Tung, CYung, KChan, YWAu, KMYuen, YPHung, CTNg, KPShek, CC
2005
125
 
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1
Journal:Journal of Nephrology
Yuen, YPLai, CKTong, GMWWong, PNWong, FKMMak, SKLo, KYWong, AKMTong, SFChan, YWLam, CW
2004
126
 
Novel splicing mutation of the PPOX gene (IVS10+1G→A) detected by denaturing high-performance liquid chromatography
Journal:Clinica Chimica Acta
Lam, CWHui, KNPoon, PMKLuk, NMYuen, YPTong, SFLai, CKChan, YWLo, KK
2001
176
 
Pantothenate kinase-associated neurodegeneration in two Chinese children: Identification of a novel PANK2 gene mutation
Journal:Hong Kong Medical Journal
Chan, KYLam, CWLee, LPTong, SFYuen, YP
2008
90
 
Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine
Journal:Blood Cancer Discovery
Wang, HChan, KYYCheng, CKNg, MHLLee, PYCheng, FWTLam, GKSChow, TWHa, SYChiang, AKSLeung, WHLeung, AYHWang, CCZhang, TZhang, XBSo, CCYuen, YPSun, QZhang, CXu, YCheung, JTKNg, WHTang, PMKang, WTo, KFLee, WYWWong, RSPoon, ENYZhao, QHuang, JChen, CYuen, PMPLi, CKLeung, AWKLeung, KT
2022
 
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II
Journal:Diagnostic Molecular Pathology
Lee, HCHLai, CKSiu, TSYuen, YPChan, KYChan, AYWTam, SMak, CMLam, CW
2010
128
Showing results 17 to 31 of 31 < previous