Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Steven L C Pei"'
Autor:
Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee, Amelia P W Hui, Mary H Y Tang, Kelvin Y K Chan, Anthony P Y Liu, Wanling Yang, P C Sham, Anita S Y Kan, Brian H Y Chung
Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-10 (2018)
Abstract Background Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal genetic diagnosis in
Externí odkaz:
https://doaj.org/article/282d5793434f48b0ae2433ea3829b919
Autor:
Steven L. C. Pei, Brian Hon-Yin Chung
Publikováno v:
Frontiers Research Topics ISBN: 9782832507551
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62a8e73b07634313cea55921c3a26b30
https://doi.org/10.3389/978-2-8325-0755-1
https://doi.org/10.3389/978-2-8325-0755-1
Autor:
Pamela P Lee, Haiyan Ma, Yen Pei Tan, Yu-Lung Lau, Patrick C. Y. Woo, Chi-Ching Tsang, Lin Kui, Jasper Fw Chan, Steven L. C. Pei
Publikováno v:
Frontiers in Immunology
Frontiers in Immunology, Vol 12 (2021)
Frontiers in Immunology, Vol 12 (2021)
Talaromyce marneffei is an important thermally dimorphic pathogen causing disseminated mycoses in immunocompromised individuals in southeast Asia. Previous studies have suggested that NLRP3 inflammasome plays a critical role in antifungal immunity. H
Autor:
Mullin H.C. Yu, Brian H.Y. Chung, Sophelia H. S. Chan, Annie T. G. Chiu, Wetor H. L. Ho, Christopher C.Y. Mak, Kit San Yeung, Jasmine L.F. Fung, Steven L. C. Pei, Virginia Wong, Bernard Ming Hong Kwong, Gordon K.C. Leung, Rui Liang, Mandy H.Y. Tsang, Francesco Muntoni
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)
Background Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging. Notably, the recent introduction of whole‐exome sequencin
Autor:
Jasmine L.F. Fung, Christopher C.Y. Mak, Claudia Ching Yan Chung, Brian H.Y. Chung, Steven L. C. Pei, Jeffrey Fong Ting Chau, Kavitha Rethanavelu, Ho M Luk
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(2)
Alstrom syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the ALMS1 (Alstrom Syndrome 1) gene. A total of 21 subjects with AS from 20 unrelated Chinese families were recruited. Our cohort consists of 9 females and 12 males, bet
Autor:
Haiyan Ma, Jasper F. W. Chan, Yen Pei Tan, Lin Kui, Chi-Ching Tsang, Steven L. C. Pei, Yu-Lung Lau, Patrick C. Y. Woo, Pamela P. Lee
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Talaromyce marneffei is an important thermally dimorphic pathogen causing disseminated mycoses in immunocompromised individuals in southeast Asia. Previous studies have suggested that NLRP3 inflammasome plays a critical role in antifungal immunity. H
Externí odkaz:
https://doaj.org/article/2f398a3a74204309994748eb5b28ba86
Autor:
Mandy H. Y. Tsang, Annie T. G. Chiu, Bernard M. H. Kwong, Rui Liang, Mullin H. C. Yu, Kit‐San Yeung, Wetor H. L. Ho, Christopher C. Y. Mak, Gordon K. C. Leung, Steven L. C. Pei, Jasmine L. F. Fung, Virginia C. N. Wong, Francesco Muntoni, Brian H. Y. Chung, Sophelia H. S. Chan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)
Abstract Background Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging. Notably, the recent introduction of whole‐exome
Externí odkaz:
https://doaj.org/article/5a0b380eb4b7467591756076bbbcdea8