Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Annie T. G. Chiu"'
Autor:
Ye Peng, Annie T. G. Chiu, Vivien W. Y. Li, Xi Zhang, Wai L. Yeung, Sophelia H. S. Chan, Hein M. Tun
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundEpilepsy-associated dysbiosis in gut microbiota has been previously described, but the mechanistic roles of the gut microbiome in epileptogenesis among children with cerebral palsy (CP) have yet to be illustrated.MethodsUsing shotgun metage
Externí odkaz:
https://doaj.org/article/9b26702e40804a31b51b4ceca273ac87
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:
Gary T. K. Mok, Lixing Zhu, Gordon K.C. Leung, Brian H.Y. Chung, Chun Bong Chow, Annie T. G. Chiu
Publikováno v:
European Journal of Medical Genetics. 59:573-576
Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability.
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:
Richard J. Rodenburg, Mandy H.Y. Tsang, Annie T. G. Chiu, Kin-Shing Lun, Cheuk-Wing Fung, Brian H.Y. Chung, Jan A.M. Smeitink, Anna K.‐Y. Kwong
Publikováno v:
Jimd Reports, 47, 23-29
JIMD Reports, Vol 47, Iss 1, Pp 23-29 (2019)
Jimd Reports, 47, 1, pp. 23-29
JIMD Reports
JIMD Reports, Vol 47, Iss 1, Pp 23-29 (2019)
Jimd Reports, 47, 1, pp. 23-29
JIMD Reports
Background Primary coenzyme Q10 (CoQ10) deficiencies are clinically and genetically heterogeneous group of disorders associated with defects of genes involved in the CoQ10 biosynthesis pathway. COQ7‐associated CoQ10 deficiency is very rare and only
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::492c0dbe0e72566f58389b050d94dccc
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/205523
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/205523
Autor:
Anna K.‐Y. Kwong, Annie T.‐G. Chiu, Mandy H.‐Y. Tsang, Kin‐Shing Lun, Richard J. T. Rodenburg, Jan Smeitink, Brian H.‐Y. Chung, Cheuk‐Wing Fung
Publikováno v:
JIMD Reports, Vol 47, Iss 1, Pp 23-29 (2019)
Abstract Background Primary coenzyme Q10 (CoQ10) deficiencies are clinically and genetically heterogeneous group of disorders associated with defects of genes involved in the CoQ10 biosynthesis pathway. COQ7‐associated CoQ10 deficiency is very rare
Externí odkaz:
https://doaj.org/article/6c42e79c38944a63a00bf138c92f9c50