Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Kit‐San Yeung"'
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:
Jeffrey Fong Ting Chau, Mianne Lee, Martin Man Chun Chui, Mullin Ho Chung Yu, Jasmine Lee Fong Fung, Christopher Chun Yu Mak, Christy Shuk-Kuen Chau, Ka Ka Siu, Jacqueline Hung, Kit San Yeung, Anna Ka Yee Kwong, Christopher O'Callaghan, Yu Lung Lau, Chun-Wai Davy Lee, Brian Hon-Yin Chung, So-Lun Lee
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Bronchiectasis is the abnormal dilation of the airway which may be caused by various etiologies in children. Beyond the more recognized cause of bacterial and viral infections and primary immunodeficiencies, other genetic conditions such as cystic fi
Externí odkaz:
https://doaj.org/article/1354567d67c147fb8a3fb1d9e75939ea
Autor:
Mandy H.Y. Tsang, Anna K.Y. Kwong, Kate L.S. Chan, Jasmine L.F. Fung, Mullin H.C. Yu, Christopher C.Y. Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jan A.M. Smeitink, Rachel Chan, Thomas Tsoi, Joannie Hui, Shelia S.N Wong, Shuk-Mui Tai, Victor C.M. Chan, Che-Kwan Ma, Sharon T.H. Fung, Shun-Ping Wu, W.K. Chak, Brian H.Y. Chung, Cheuk-Wing Fung
Publikováno v:
Human Genomics, Vol 14, Iss 1, Pp 1-10 (2020)
Abstract 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 cruci
Externí odkaz:
https://doaj.org/article/8385714f30b847afbf46e0c0a43d9134
Autor:
Kit San Yeung, Tsz Leung Lee, Mo Yin Mok, Christopher Chun Yu Mak, Wanling Yang, Patrick Chun Yin Chong, Pamela Pui Wah Lee, Marco Hok Kung Ho, Sanaa Choufani, Chak Sing Lau, Yu Lung Lau, Rosanna Weksberg, Brian Hon Yin Chung
Publikováno v:
Epigenetics, Vol 14, Iss 4, Pp 341-351 (2019)
Patients with paediatric-onset systemic lupus erythematosus (SLE) often present with more severe clinical courses than adult-onset patients. Although genome-wide DNA methylation (DNAm) profiling has been performed in adult-onset SLE patients, paralle
Externí odkaz:
https://doaj.org/article/89d8edee4cdc49f6be155e835dbf1cfd
Publikováno v:
BMJ Paediatrics Open, Vol 5, Iss Suppl 1 (2021)
Externí odkaz:
https://doaj.org/article/c8f7ea57976444bd9880a02fbb283d46
Autor:
Kit San Yeung, Fong Ting Jeffrey Chau, Ho Chung Mullin Yu, Sze-Man Clara Tang, Hon-Yin Brian Chung
Publikováno v:
BMJ Paediatrics Open, Vol 5, Iss Suppl 1 (2021)
Externí odkaz:
https://doaj.org/article/66ac81c1e77b419eb06f7002033929f7
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
Autor:
Mullin Ho Chung Yu, Jeffrey Fong Ting Chau, Sandy Leung Kuen Au, Hei Man Lo, Kit San Yeung, Jasmine Lee Fong Fung, Christopher Chun Yu Mak, Claudia Ching Yan Chung, Kelvin Yuen Kwong Chan, Brian Hon Yin Chung, Anita Sik Yau Kan
Publikováno v:
Frontiers in Genetics, Vol 11 (2021)
Balanced chromosomal abnormalities (BCAs) are changes in the localization or orientation of a chromosomal segment without visible gain or loss of genetic material. BCAs occur at a frequency of 1 in 500 newborns and are associated with an increased ri
Externí odkaz:
https://doaj.org/article/cb6b8e42a9e64cac834d66ea5759d89c
Autor:
Claudia C.Y. Chung, Gordon K.C. Leung, Christopher C.Y. Mak, Jasmine L.F. Fung, Mianne Lee, Steven L.C. Pei, Mullin H.C. Yu, Vivian C.C. Hui, Joshua C.K. Chan, Jeffrey F.T. Chau, Marcus C.Y. Chan, Mandy H.Y. Tsang, Wilfred H.S. Wong, Joanna Y.L. Tung, Kin Shing Lun, Yiu Ki Ng, Cheuk Wing Fung, Mabel S.C. Wong, Rosanna M.S. Wong, Yu Lung Lau, Godfrey C.F. Chan, So Lun Lee, Kit San Yeung, Brian H.Y. Chung
Publikováno v:
The Lancet Regional Health. Western Pacific, Vol 1, Iss , Pp 100001- (2020)
Background: Rapid whole-exome sequencing (rWES) offers the potential for early diagnosis-predicated precision medicine. Previous evidence focused predominantly on infants from the intensive care unit (ICU). This study sought to examine the diagnostic
Externí odkaz:
https://doaj.org/article/e398ebf6ac4d424a93584d7da343cb7a
Autor:
Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy. The KLHL40 c.1516A>C variant has recently been reported as a founder mutation
Externí odkaz:
https://doaj.org/article/8b47cc4e100149eabcf38a90b8391572