Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Mandy Ho-yin Tsang"'
Autor:
Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau, Shuk-Mui Tai, Eva Lai-Wah Fung, Nick Shun-Ping Wu, Li-Yan Tsung, Jan Smeitink, Brian Hon-Yin Chung, Cheuk-Wing Fung
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The objective of our study
Externí odkaz:
https://doaj.org/article/a75fac8f007d420a85ab11522cca237a
Autor:
Jeffrey Fong Ting Chau, Mullin Ho Chung Yu, Martin Man Chun Chui, Cyrus Chun Wing Yeung, Aaron Wing Cheung Kwok, Xuehan Zhuang, Ryan Lee, Jasmine Lee Fong Fung, Mianne Lee, Christopher Chun Yu Mak, Nicole Ying Ting Ng, Claudia Ching Yan Chung, Marcus Chun Yin Chan, Mandy Ho Yin Tsang, Joshua Chun Ki Chan, Kelvin Yuen Kwong Chan, Anita Sik Yau Kan, Patrick Ho Yu Chung, Wanling Yang, So Lun Lee, Godfrey Chi Fung Chan, Paul Kwong Hang Tam, Yu Lung Lau, Kit San Yeung, Brian Hon Yin Chung, Clara Sze Man Tang
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier frequencies of recessive conditions in the Southern Chinese population is not yet available,
Externí odkaz:
https://doaj.org/article/a4439854ca474791ac85c6eeb89fbddb
Autor:
Kit San Yeung, Winnie Wan Yee Tso, Janice Jing Kun Ip, Christopher Chun Yu Mak, Gordon Ka Chun Leung, Mandy Ho Yin Tsang, Dingge Ying, Steven Lim Cho Pei, So Lun Lee, Wanling Yang, Brian Hon-Yin Chung
Publikováno v:
Molecular Autism, Vol 8, Iss 1, Pp 1-11 (2017)
Abstract Background Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Although PTEN is a well-
Externí odkaz:
https://doaj.org/article/9b94f5a06273458588cf48e2ab2e0cf9
Publikováno v:
Clinical Pediatric Endocrinology. 31:168-171
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ededb074074755cc927a74fed1227ef2
https://doi.org/10.1297/cpe.2022-0013
https://doi.org/10.1297/cpe.2022-0013
Autor:
Jeffrey Fong Ting Chau, Mullin Ho Chung Yu, Martin Man Chun Chui, Cyrus Chun Wing Yeung, Aaron Wing Cheung Kwok, Xuehan Zhuang, Ryan Lee, Jasmine Lee Fong Fung, Mianne Lee, Christopher Chun Yu Mak, Nicole Ying Ting Ng, Claudia Ching Yan Chung, Marcus Chun Yin Chan, Mandy Ho Yin Tsang, Joshua Chun Ki Chan, Kelvin Yuen Kwong Chan, Anita Sik Yau Kan, Patrick Ho Yu Chung, Wanling Yang, So Lun Lee, Godfrey Chi Fung Chan, Paul Kwong Hang Tam, Yu Lung Lau, Kit San Yeung, Brian Hon Yin Chung, Clara Sze Man Tang
Publikováno v:
NPJ genomic medicine. 7(1)
Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier frequencies of recessive conditions in the Southern Chinese population is not yet available, we perfor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d237aecededd7fce66cf66494f604fb
https://pubmed.ncbi.nlm.nih.gov/35314707
https://pubmed.ncbi.nlm.nih.gov/35314707
Autor:
Mandy Ho-Yin Tsang, Anna Ka-Yee Kwong, Kate Lok-San Chan, Jasmine Lee-Fong Fung, Mullin Ho-Chung Yu, Christopher Chun-Yu Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jam A.M. Smeitink, Rachel Chan, Thomas Tsoi, Joannie Hui, Sheila Suet-Na Wong, Shuk-Mui Tai, Victor Chi-Man Chan, Che-Kwan Ma, Tsiu-Hang Sharon Fung, Shun-Ping Wu, WK Chan, Brian Hon-Yin Chung, Cheuk-wing Fung
Background Mitochondrial diseases (MDs) are a group of clinically and genetically heterogeneous disorders characterized by defects in oxidative phosphorylation. Since clinical phenotypes of MDs may be non-specific, genetic diagnosis is crucial for gu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8abf1db67e9dcdc1316872c588d761f5
https://doi.org/10.21203/rs.3.rs-23585/v2
https://doi.org/10.21203/rs.3.rs-23585/v2
Autor:
Mullin Ho Chung, Yu, Christopher Chun Yu, Mak, Jasmine Lee Fong, Fung, Mianne, Lee, Mandy Ho Yin, Tsang, Jeffrey Fong Ting, Chau, Patrick Ho-Yu, Chung, Wanling, Yang, Godfrey Chi Fung, Chan, So Lun, Lee, Yu Lung, Lau, Paul Kwong Hang, Tam, Clara Sze Man, Tang, Kit San, Yeung, Brian Hon Yin, Chung
Publikováno v:
Journal of human genetics. 66(6)
The use of exome and genome sequencing has increased rapidly nowadays. After primary analysis, further analysis can be performed to identify secondary findings that offer medical benefit for patient care. Multiple studies have been performed to evalu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c3e3bfbed105ad8231560b7d5e196818
https://pubmed.ncbi.nlm.nih.gov/33223521
https://pubmed.ncbi.nlm.nih.gov/33223521
Autor:
Mullin Ho Chung Yu, Marcus Chun Yin Chan, Claudia Ching Yan Chung, Andrew Wang Tat Li, Chara Yin Wa Yip, Christopher Chun Yu Mak, Jeffrey Fong Ting Chau, Mianne Lee, Jasmine Lee Fong Fung, Mandy Ho Yin Tsang, Joshua Chun Ki Chan, Wilfred Hing Sang Wong, Jing Yang, William Chun Ming Chui, Patrick Ho Yu Chung, Wanling Yang, So Lun Lee, Godfrey Chi Fung Chan, Paul Kwong Hang Tam, Yu Lung Lau, Clara Sze Man Tang, Kit San Yeung, Brian Hon Yin Chung
Publikováno v:
PLoS Genetics, Vol 17, Iss 2, p e1009323 (2021)
Preemptive pharmacogenetic testing has the potential to improve drug dosing by providing point-of-care patient genotype information. Nonetheless, its implementation in the Chinese population is limited by the lack of population-wide data. In this stu
Externí odkaz:
https://doaj.org/article/17bc0de37ec248a2bc84c547426580ef