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Showing results 19 to 38 of 60 < previous next >

Title	Author(s)	Issue Date	Views
Decision outcomes in women offered noninvasive prenatal test (NIPT) for positive Down screening results Journal:The Journal of Maternal-Fetal & Neonatal Medicine	Lo, TK Chan, YK Kan, SYA So, PL Kong, CW Mak, SL Lee, CN	2019
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept Journal:npj Genomic Medicine	Lee, M Kwong, KY Chui, MCM CHAU, FTJ Mak, CCY Au, LKS Lo, HM Chan, YK Yepez, VA Gagneur, J Kan, SYA Chung, BHY	2022
Dysregulation of the CD147 complex confers defective placental development: A pathogenesis of early‐onset preeclampsia Journal:Clinical and Translational Medicine	Lee, CL Chen, Z Zhang, Q Guo, Y Ng, WYV Zhang, B Bai, K Ruan, D Kan, SYA Cheung, KW Mak, SLA Yeung, WSB Su, R Yang, Q Chen, M Du, M Zhang, J Fan, X Chiu, CN	2022	10
Effect of knowledge on women’s likely uptake of and willingness to pay for non-invasive test (NIPT) Journal:European Journal of Obstetrics & Gynecology and Reproductive Biology	Lo, TK Chan, YK Kan, SYA So, PL Kong, CW Mak, SL Lee, CN	2018	28
Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome Journal:Hong Kong Medical Journal	Kou, KOT Poon, CF Kwok, SL Chan, KY Tang, MHY Kan, SYA Leung, KY	2016	53
Exome sequencing identifies compound heterozygous DYNC2H1 variants associated with short-rib polydactyly syndrome type III with involvement of omphalocele in a fetus. Proceeding/Conference:23rd Internatinal Conference on Prenatal Diagnosis and Therapy (ISPD 2019)	Chan, YK Au, LKS Cheung, KW Yeung, KS Yu, HC Chung, BHY Kan, SYA	2019
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy Journal:Epilepsia Open	Tsang, HY Leung, KC Ho, CCA Yeung, KS Mak, CCY Pei, LCS Yu, HC Kan, SYA Chan, YK Kwong, KL Lee, SL Yung, AWY Fung, CW Chung, BHY	2019	111
Expanded Prader-Willi Syndrome Due to Chromosome 15q11.2-14 Deletion: Report and a Review of Literature Journal:American Journal of Medical Genetics, Part A	Liu, APY Tang, WF Lau, ETK Chan, YK Kan, SYA Wong, KY Tso, WYW Jalal, K Lee, SL Chau, CSK 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
First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing Journal:Genes	Shu, W Cheng, SS.W.Xue, S Chan, LW Soong, SI Kan, SYA Cheung, SWH Choy, KW	2021	4
First Report of a Novel Deletion Due to εγδβ-Thalassemia in a Chinese Family Journal:Hemoglobin	Hui, ASY Au, PKC Ting, YH Kan, SYA Cheng, YKY Leung, AWK Chan, YK Li, CK Tang, MHY Leung, TY	2017	34
Genetic counseling/consultation in South-East Asia: A report from the workshop at the 10th Asia Pacific Conference on Human Genetics Journal:Journal of Genetic Counseling	Zayts, OA Sarangi, S Thong, MK Chung, BHY Lo, FM Kan, SYA Lee, MH Padilla, CD Cutiongco-de la Paz, EM Faradz, MHS Wasant, P	2013	80
Health professionals’ involvement and information provision in genetic counseling following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong Journal:International Journal of Gynecology & Obstetrics	So, PL Cheng, YKY Cheuk, KY Chiu, WK Mak, SL Mok, SL Lo, TK Yung, WK Lo, FMI Chung, BHY Kan, SYA Lee, CP Tang, MHY	2019	61
Homozygous Missense Mutation in ABR Causes Cerebellar Hypoplasia with Early Lethality - A New Condition Identified by Exome Sequencing? Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Ying, D Shek, NWM Chu, WY Yeung, KS Leung, KC Tang, MHY Kan, SYA Chan, YK Chung, BHY	2014	67
Human placental exosomes induce maternal systemic immune tolerance by reprogramming circulating monocytes Journal:Journal of Nanobiotechnology	BAI, K Lee, CL Liu, X LI, J Cao, D Zhang, L Hu, D Li, H Hou, Y Xu, Y Kan, SYA Cheung, KW Ng, EHY Yeung, WSB Chiu, CN	2022	7
Identification of a novel homozygous missense mutation in ABR causing cerebellar hypoplasia with early lethality Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Leung, GKC Ying, D Shek, NWM Chu, WY Yeung, KS Tang, MHY Kan, SYA Chan, YK Ip, JKJ Yang, W Lau, YL Chung, BHY	2016	52
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
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) Journal:BMC Medical Genomics	Leung, KC Mak, CCY Fung, LF Wong, WHS Tsang, HY Yu, HC Pei, LCS Yeung, KS Mok, TKG Lee, CP Hui, PW Tang, MHY Chan, YK Liu, APY Yang, W Sham, PC Kan, SYA Chung, BHY	2018	111
Immunoprophylaxis Failure of Infants Born to Hepatitis B Carrier Mothers Following Routine Vaccination Journal:Clinical Gastroenterology and Hepatology	Cheung, KW Seto, TYM Kan, SYA Jalal, K Chee, WYY Wong, RMS Lee, CP Ng, EHY	2018
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

Showing results 19 to 38 of 60 < previous next >