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Showing results 1 to 19 of 19

	Title	Author(s)	Issue Date	Views
	A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report Journal:Diagnostics	Ng, KSV Lau, TK Kan, SYA Chung, BHY Luk, HM Ng, WF Shi, M Choy, KW Cao, Y Leung, WC	2021	4
	A prenatal case of Noonan syndrome with cystic hygroma and normal karyotype Proceeding/Conference:1st BCM-CUHK (Baylor College of Medicine-The Chinese University of Hong Kong) Joint Symposium in Clinical Genetics and Birth Defects, 2017	So, PL Luk, HM Kan, SYA	2017
	Applications and Safety of Sentinel Lymph Node Biopsy in Endometrial Cancer Journal:Journal of Clinical Medicine	Chiu, KC Kwok, STG Wang, Y Luk, HM Chan, HYA Tse, KY	2022
	Chinese patients with rasopathies: Detection of 29 known and novel variants using next-generation sequencing (NGS) Proceeding/Conference:36th Annual David W. Smith Workshop	Leung, KC Lo, I Luk, HM Tang, HMV Gao, W Wong, WL Chu, WY Lam, STS Ma, CH Jin, D Chan, YK Chung, BHY	2015	50
	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
	Evidence of spread of X Chromosome inactivation on Chromosome 15 in a girl with an Unbalanced t(X;15) Translocation Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Yeung, KS Chee, WYY Luk, HM Tang, MHY Lau, ETK Shuen, YA Lo, IFM Chan, YK Chung, BHY	2013
	Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics	Cheng, SSW Chan, YK Leung, KKP Au, PKC Tam, WK Li, SKM Luk, HM Kan, SYA Chung, BHY Lo, FMI Tang, MHY	2019	113
	Identifying genetic mutations in patients with Rasopathies using a Next Generation Sequencing Diagnostic Pipeline in Hong Kong Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Lo, IFM Leung, KC Luk, HM Tang, VHM Gao, W Wong, WL Tang, LYF Chu, WY Kan, SYA Tang, MHY Lam, STS Yang, W Ma, CH Jin, D Chan, YK Chung, BHY	2014	123
	Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies Journal:Genes	So, PL Hui, AST Ma, TWL Shu, W Hui, PW Kong, CW Lo, TK Kan, ABC Kan, EYL Chong, SC Chung, BHY Luk, HM Choy, KW Kan, SYA Leung, WC	2022
	Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies Journal:Scientific Reports	Leung, KC Luk, HM Tang, HMV Gao, W MAK, CCY YU, HC Wong, WL Chu, WY Yang, W Wong, WHS Ma, CH Leung, AYH Jin, D Chan, YK Allanson, J Lo, FMI Chung, BHY	2018	100
	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
	A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling Journal:European Journal of Medical Genetics	Luk, HM Wong, VCH Lo, IFM Chan, YK Lau, ETK Kan, SYA Tang, MHY Tang, WF She, WMK Chu, WY Sin, WK Chung, BHY	28-Jan-2014	88
	Prenatal diagnosis and long term follow up of a patient with mosaic variegated aneuploidy and its molecular analysis Proceeding/Conference:22nd International Conference on Prenatal Diagnosis and Therapy, 2018	Lin, SM Luk, HM Kan, SYA Tam, WK Chan, KYK Tse, HY Leung, WC Tang, MHY	2018	35
	Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis Journal:Clinical Case Reports	LIN, SM LUK, HM LO, IFM TAM, WK Chan, KYK TSE, HY Leung, WC Tang, MHY Kan, ASY	2020	13
	Prenatal diagnosis of familial atretic encephalocele Journal:Ultrasound in Obstetrics and Gynecology	Lau, WL Yung, WY Leung, WC Kan, A Chan, K Luk, HM Kan, E Lam, YY	2019
	Prenatal phenotype of Kabuki syndrome: A case series and literature review Journal:Prenatal Diagnosis	So, PL Luk, HM Cheung, KW Hui, W Chung, MY Mak, SLA Lok, WY Yu, KPT Cheng, SS.W.Hau, EW.L.Ho, S Lam, ST.S.Lo, IF.M.	2021	5
	Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications Journal:American Journal of Medical Genetics Part A	Yu, PT Shu, W Mok, SL Hui, PW Chan, LW Kwok, KY Chan, YK Lo, TK Chung, BHY Luk, HM Kan, SYA	2022	9
	A second report of p.Pro986Leu variant in COL2A1 - phenotypic overlap with SEDC and other forms of type II collagenopathies Journal:American Journal of Medical Genetics (Part A)	Chung, BHY Luk, HM Lo, IFM Lam, STS Li, RHW	2013
	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	76

Showing results 1 to 19 of 19