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Bhy Chung

University of Hong Kong

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Publication

Featured researches published by Bhy Chung.

Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine | 2004

Chronic benign neutropenia among Chinese children

Bhy Chung; Gcf Chan; Tl Lee; Jsy Kwok; Aks Chiang; Yl Lau

Archive | 2018

Application of whole exome sequencing in neuromuscular disorders patients in Hong Kong

Hy Tsang; Bmh Kwong; Lcs Pei; Kc Leung; Ks Yeung; Ccy Mak; Hc Yu; Lf Fung; R Liang; Bhy Chung; Hss Chan

Archive | 2018

COQ10 deficiency due to biallelic COQ4 mutations – An early onset mitochondrial disorder common in southern Chinese due to a founder mutation

Hc Yu; Hy Tsang; Lcs Pei; Vcm Chan; Rjt Rodenburg; J.A.M. Smeitink; Nnc Lee; Cw Fung; Bhy Chung

Archive | 2016

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

Bhy Chung; Ks Yeung; Wyw Tso; D Ying; Jkj Ip; Wy Chu; Kc Leung; Ccy Mak

Archive | 2016

Mutations in ATP6V1E1 or ATP6V1A cause AR cutis laxia

T van Damme; T Gardenchik; Miski Mohamed; S Gucerrero-Castillo; Peter Freisinger; Brecht Guillemyn; Ariana Kariminejad; Daisy Dalloyaux; S van Kraaij; Dirk J. Lefeber; Delfien Syx; Wouter Steyaert; R De Rycke; A Hotschen; Ej Kamstccg; Sy Wong; M van Scherpenzeei; P Jamali; Ulrich Brandt; Leo Nijtmans; C Korenke; Bhy Chung; Ccy Mak; Ingrid Hausser; Uwe Kornak; Björn Fischer-Zirnsak; Tim M. Strom; Thomas Meitinger; Yasemin Alanay; Gülen Eda Utine

Archive | 2016

Identification of a CFTR founder mutations, c.3068T>G:p.I1023R, which causes protein trafficking defects in Chinese patients with cystic fibrosis

Kc Leung; Dingge Ying; Ccy Mak; Xy Chen; W Xu; Ks Yeung; Wy Chu; Tkg Mok; Skc Chau; J McLuskey; Wpt Ong; Hy Leong; Yk Chan; Wanling Yang; Ji Hua Chen; Albert M. Li; Yu-Lung Lau; Sl Lee; Bhy Chung

Archive | 2016

Genetic diagnosis of early onset epilepsy by whole exome sequencing and chromosomal array in Hong Kong

Hy Tsang; Kc Leung; Ccy Mak; Wy Chu; X Mu; Sl Lee; Gcf Chan; Awy Yung; Bhy Chung

Archive | 2016

Copy number variation in Hong Kong patients with autism spectrum disorder

Asl Mak; Gkc Leung; Ccy Mak; Ywy Chu; Gtk Mok; Twf Tang; Kl Chan; Asy Kan; Mhy Tang; Etk Lau; Kw So; Qv Tao; Cw Fung; Vcn Wong; Sl Lee; Bhy Chung

Archive | 2016

Reading NGS Test Report: What a clinician needs to know

Bhy Chung; Kc Leung; Ks Yeung; Ccy Mak

Archive | 2016

A DYNC1H1 mutation causes a lower extremity predominance spinal muscular atrophy

Shs Chan; Bhy Chung; Ccy Mak; Ej Kamsteeg

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Pl Khong

Queen Mary Hospital

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Albert M. Li

The Chinese University of Hong Kong

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Cw Fung

University of Hong Kong

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Lj Zhou

University of Hong Kong

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Patrick Ip

University of Hong Kong

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Sl Lee

University of Hong Kong

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Yk Chan

University of Hong Kong

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Ji Hua Chen

Fourth Military Medical University

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Dingge Ying

University of Hong Kong

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F.L. Chan

Queen Mary Hospital

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