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Showing results 1 to 7 of 7

	Title	Author(s)	Issue Date	Views
	The genetics of macrocephaly, autistic spectrum disorders and developmental delay in Chinese children Proceeding/Conference:Developmental Medicine and Child Neurology	Tso, WYW YEUNG, KS Ip, JKJ Liu, APY Lee, PPW Chu, WY Chong, CY Ho, MHK Chan, GCF Lau, YL Chung, BHY	2017	140
	Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum Journal:American Journal of Medical Genetics Part A	YEUNG, KS Ip, JKJ Chow, CP Kuong, EEYL Tam, PKH Chan, GCF Chung, BHY	2017	49
	Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese Journal:npj Genomic Medicine	YU, MHC TSANG, MHY Lai, S Ho, MSP Tse, DML Willis, B Kwong, AKY Chou, YY Lin, SP Quinzii, CM Hwu, WL Chien, YH Kuo, PL Chan, VCM Tsoi, C Chong, SC Rodenburg, RJT Smetinik, J Mak, CCY Yeung, KS Fung, LF Lam, W Hui, J Lee, NC Fung, CW Chung, BHY	2019	68
	Mutation in PIK3CA leading to developmental mosaic disorders Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2015	Yeung, KS Leung, GKC Wong, WL Li, CH Choi, KY Kuong, EEYL Chow, W To, MKT Ip, JKJ Chow, CP Chan, GCF Chung, BHY	2015	127
	Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism Journal:Molecular Autism	Yeung, KS Tso, WYW Ip, JKJ MAK, CCY Leung, KC TSANG, HY Ying, D Pei, LCS Lee, SL Yang, W Chung, BHY	2017	75
	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	40
	Exome sequencing of a Chinese patient cohort with ID/ASD and macrocephaly/megalencephaly: Identification of a patient with biallelic PTEN mutations and others with germline/ post-zygotic mutations in PIK3C-AKT-mTOR pathway Proceeding/Conference:17th Manchester Dysmorphology Conference	Chung, BHY Yeung, KS Tso, WYW Ying, D Ip, JKJ Chu, WY Leung, KC Mak, CCY	2016	43

Showing results 1 to 7 of 7