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Showing results 1 to 15 of 15

	Title	Author(s)	Issue Date	Views
	Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism Journal:International Journal of Pediatric Endocrinology	Tung, JYL Lai, SHY Au, SLK Yeung, KS Kan, ASY Loong, F DeLeon, DD Kalish, JM Ganguly, A Chung, BHY Chan, KYK	2020	29
	Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese Journal:npj Genomic Medicine	Chau, FTJ YU, HC Chui, MCM Yeung, CCW Kwok, AWC ZHUANG, X Lee, R Fung, LF LEE, M Mak, CCY Ng, YTN Chung, CY Chung, CY TSANG, HY Chan, JCK Chan, YK Kan, ASY Chung, HY Yang, W Lee, SL Chan, GCF Tam, PKH Lau, YL Yeung, KS Chung, BHY Tang, SM	2022	12
	Copy number variation in Hong Kong patients with autism spectrum disorder Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Mak, ASL Leung, GKC Mak, CCY Chu, YWY Mok, GTK Tang, TWF Chan, KYK Kan, ASY Tang, MHY Lau, ETK So, KW Tao, QV Fung, CW Wong, VCN Lee, SL Chung, BHY	2016	68
	Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong Journal:BMC Pregnancy and Childbirth	CHUNG, CCY Chan, KYK Hui, PW Au, PKC Tam, WK Li, SKM Leung, GKC Fung, JLF Chan, MCY Luk, HM Mak, ASL Leung, KY Tang, MHY Chung, BHY Kan, ASY	2020	44
	Evaluating the clinical utility of genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis Proceeding/Conference:Health Research Symposium 2021	Yu, MHC Chau, FTJ Au, SLK Lo, HM Yeung, KS Fung, JLF Mak, CCY Chung, CCY Chan, KYK Chung, BHY Kan, ASY	2021	16
	Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis Journal:Frontiers in Genetics	YU, MHC CHAU, JFT Au, SLK Lo, HM Yeung, KS Fung, JLF Mak, CCY CHUNG, CCY Chan, KYK Chung, BHY Kan, ASY	2021	44
	Homozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing? Proceeding/Conference:American Journal of Medical Genetics Part A	Ying, D Shek, NWM Chu, YWY Yeung, KS Leung, KC Tang, MHY Kan, ASY Chan, YK Chung, BHY	2015	56
	Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases Journal:Prenatal Diagnosis	Yu, FNY Li, EYY Kong, MCW Ma, TWL Chan, KYK Man, E Chung, BHY Kan, ASY	2021	26
	Massive parallel sequencing for the genetic diagnosis of rasopathies: a study of 58 Chinese patients in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2013	Lo, IFM Leung, KC Luk, MHM Wong, WL Tang, LYF Chu, YWY Kan, ASY Tang, MHY Lam, STS Yang, W Chan, YK Chung, BHY	2013	26
	Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature Journal:American Journal of Medical Genetics Part A	Seto, MTY Bertoli-Avella, AM Cheung, KW Chan, KYK Yeung, KS Fung, JLF Beetz, C Bauer, P Luk, HM Lo, IFM Lee, CP Chung, BHY Kan, ASY	2021	18
	Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in <i>SMAD4</i> gene presented with thick nuchal translucency and cardiac abnormalities Journal:Prenatal Diagnosis	Hui, PW Mok, YK Luk, HM Au, SLK Lau, EYT Chung, B Kan, ASY	2-Aug-2023
	Spread of X Inactivation on Chromosome 15 is Associated with a More Severe Phenotype in a Girl with an Unbalanced t(X;15) Translocation Journal:American Journal of Medical Genetics Part A	Yeung, KS Chee, WYY Luk, HM Kan, ASY Tang, MHY Lau, ETK Shuen, AY Lo, IFM Chan, YK Chung, BHY	2014	57
	The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes Journal:Molecular Genetics & Genomic Medicine	Yeung, KS Yu, FNY Fung, CW Wong, S Lee, HCH Fung, STH Fung, GPG Leung, KY Chung, WH Lee, YT Ng, VKS YU, HC Fung, JLF TSANG, MHY Chan, KYK Chan, SHS Kan, ASY Chung, BHY	2020	49
	Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10 Journal:Molecular Autism	Mak, ASL Chiu, TA Leung, KC Mak, CCY Chu, WY Mok, TKG Tang, WF Chan, YK Tang, MHY Lau, ETK So, KW Tao, QV Fung, CW Wong, CNV Uddin, M Lee, SL Marshall, CR Scherer, SW Kan, ASY Chung, BHY	2017	159
	An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum Proceeding/Conference:Neuromuscular Disorders	Chan, SHS Kan, ASY Tse, HF	2013	42

Showing results 1 to 15 of 15