Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jasmine L F Fung"'
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:
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
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
Autor:
Mianne, Lee, Adrian C Y, Lui, Christopher C Y, Mak, Mandy H Y, Tsang, Jasmine L F, Fung, K S, Yeung, Brian Hon Yin, Chung
Publikováno v:
Clinical Dysmorphology. 31:113-124
Mosaicism refers to the coexistence of two or more genetically distinct cell populations in an individual from a single fertilized egg. We performed a retrospective analysis of all patients diagnosed with mosaic disorders between 2010 and 2021 in a u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf976502661d9c5e9201dc19477ebf16
https://doi.org/10.1097/mcd.0000000000000418
https://doi.org/10.1097/mcd.0000000000000418
Autor:
G. Y. Wong, Zita G. K. Hung, Karin K. H. Ho, S. C. Ling, Jasmine L. F. Fung, Mianne Lee, Jeffrey F. T. Chau, S. Y. Ha, Brian H. Y. Chung
Publikováno v:
Pediatric bloodcancer.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ab2d01cc35826a30beeb899e749bbd3
https://pubmed.ncbi.nlm.nih.gov/36546314
https://pubmed.ncbi.nlm.nih.gov/36546314
Publikováno v:
Journal of Genetic Counseling. 30:75-84
In this paper, we present evidence that in counseling culturally diverse patients, differences in spoken language and cultural beliefs of the patients and genetic counseling professionals do not necessarily impede successful counseling. We also highl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98080719e8a34bcc51f93eab1b6586a7
https://doi.org/10.1002/jgc4.1385
https://doi.org/10.1002/jgc4.1385
Autor:
Claudia C. Y. Chung, Jasmine L. F. Fung, Adrian C. Y. Lui, Marcus C. Y. Chan, Yvette N. C. Ng, Wilfred H. S. Wong, So Lun Lee, Martin Knapp, Brian H. Y. Chung
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Scientific Reports
Scientific Reports
The measurement of costs is fundamental in healthcare decision-making, but it is often challenging. In particular, standardised methods have not been developed in the rare genetic disease population. A reliable and valid tool is critical for research
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d87d2750c4a2fff8f46f900bdff82c98
http://eprints.lse.ac.uk/113404/
http://eprints.lse.ac.uk/113404/
