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Showing results 1 to 10 of 10

	Title	Author(s)	Issue Date	Views
	Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion Journal:Clinical Genetics	Chiu, TA Pei, LCS MAK, CCY Leung, KC YU, HC Lee, SL Vreeburg, M Pfundt, R van der Burgt, I Kleefstra, T Frederic, TMT Nambot, S Faivre, L Bruel, AL Rossi, M Isidor, B Kury, S Cogne, B Besnard, T Willems, M Reijnders, MRF Chung, BHY	2018	132
	Novel damaging mutations in CC2D1A suggest a role in human heterotaxy and ciliary dysfunction Proceeding/Conference:American Society of Human Genetics (ASHG) Virtual Meeting, 2020	Chung, BHY Ma, ACH Mak, CCY Yeung, KS Ding, J Pei, LCS Ying, D Chow, PC Yu, HC Hasan, KMM Chen, X Cheung, YF	2020	20
	NLRP3 Inflammasome Contributes to Host Defense Against Talaromyces marneffei Infection Journal:Frontiers in Immunology	Chan, JFW Tan, YP Kui, L Tsang, CC Pei, LCS Lau, YL Woo, PCY Lee, PPW	2021
	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
	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
	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
	Editorial: Genetics and mechanism of ciliopathies Journal:Frontiers in Genetics	Pei, LCS Chung, BHY	2022
	COQ10 deficiency due to biallelic COQ4 mutations – An early onset mitochondrial disorder common in southern Chinese due to a founder mutation Proceeding/Conference:2nd Joint Annual Research & Scientific Meeting 2018 of the Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing	YU, HC TSANG, HY Pei, LCS Chan, VCM Rodenburg, RJT Smeitink, J Lee, NNC Fung, CW Chung, BHY	2018	58
	Application of whole exome sequencing in neuromuscular disorders patients in Hong Kong Proceeding/Conference:2nd Joint Annual Research & Scientific Meeting 2018 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing	TSANG, HY Kwong, BMH Pei, LCS Leung, KC Yeung, KS MAK, CCY YU, HC Fung, LF Liang, R Chung, BHY Chan, HSS	2018	66
	A novel role of CC2D1A in human heterotaxy and ciliary dysfunction Proceeding/Conference:Joint Annual Scientific Meeting 2020 of The Hong Kong Paediatric Society (HKPS), Hong Kong College of Paediatricians (HKCPaed), Hong Kong Paediatric Nurses Association (HKPNA) and Hong Kong College of Paediatric Nursing (HKCPN)	Mak, CCY Ma, ACH Yeung, KS Pei, LCS Ying, D Yu, HC Hasan, KMM Chen, X Cheung, YF Chung, BHY	2020	47

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