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Showing results 1 to 11 of 11

	Title	Author(s)	Issue Date	Views
	Congenital Fibrosis of the Extraocular Muscles: a Rare Entity Journal:Hong Kong Journal of Radiology	Ip, JKJ Marcet, MM Yan, KW Lam, WWM Chau, MT	2013	65
	Echogenic and Cystic Fetal Lung Lesions: Evaluation by Prenatal Sonography and Postnatal Imaging Journal:Hong Kong Journal of Radiology	Ho, G Cheung, KW Lam, HL Ip, JKJ Tang, MHY Lam, WWM	2013	20
	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	46
	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	48
	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	68
	Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension Journal:American Journal of Medical Genetics Part A	McDonell, LM Leung, KC Daoud, H Ip, JKJ Chim, S Luk, HM Lan, CLL Care4Rare Canada Consortium Boycott, KM Chung, BHY	2018	47
	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	144
	Radiological features of PIK3CA-related overgrowth spectrum (PROS) Proceeding/Conference:Annual Scientific Meeting of Hong Kong College of Radiologists, HKCR 2016	Li, YL Ip, JKJ Cheung, KKY Chung, BHY Lam, WWM	2016	24
	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
	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	101
	What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series)	Leung, WY Ip, JKJ Chung, BHY	2012	48

Showing results 1 to 11 of 11