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Autor:
Nguyen, Khanh Ngoc, Tran, Van Khanh, Nguyen, Ngoc Lan, Can, Thi Bich Ngoc, Dang, Thi Kim Giang, Nguyen, Thu Ha, Do, Thi Thanh Mai, Phuong, Le Thi, Tran, Thinh Huy, Ta, Thanh Van, Tu, Nguyen Huu, Vu, Chi Dung
Publikováno v:
Medicina (1010660X); Nov2024, Vol. 60 Issue 11, p1877, 12p
Autor:
Can Thi Bich Ngoc, Vu Chi Dung, Elisa De Franco, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Nguyen Huy Hoang, Tran Minh Dien
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundNeonatal diabetes mellitus (NDM) is a rare (1:90,000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Dominantly-acting insulin (INS) gene mutations cause permanent
Externí odkaz:
https://doaj.org/article/e52db62c09124980810fa53d5aa4d7f4
Autor:
Can Thi Bich Ngoc, Tran Minh Dien, Elisa De Franco, Sian Ellard, Jayne A. L. Houghton, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Vu Chi Dung
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
BackgroundNeonatal diabetes mellitus (NDM) is defined as insulin-requiring persistent hyperglycemia occurring within the first 6 months of life, which can result from mutations in at least 25 different genes. Activating heterozygous mutations in gene
Externí odkaz:
https://doaj.org/article/d9268d9f86894748b473686803115941
Publikováno v:
Diagnostics, Vol 10, Iss 10, p 741 (2020)
Muscular dystrophies are a group of heterogeneous clinical and genetic disorders. Two siblings presented with characteristics like muscular dystrophy, abnormal white matter, and elevated serum creatine kinase level. The high throughput of whole exome
Externí odkaz:
https://doaj.org/article/74a9c9b3fc854d2ab0b7a4e4d111c942
Autor:
Duong Chi Thanh, Can Thi Bich Ngoc, Ngoc-Lan Nguyen, Chi Dung Vu, Nguyen Van Tung, Huy Hoang Nguyen
Publikováno v:
Medicina, Vol 56, Iss 2, p 76 (2020)
Cornelia de Lange Syndrome (CdLS) is a rare congenital genetic disease causing abnormal unique facial phenotypes, several defects in organs and body parts, and mental disorder or intellectual disorder traits. Main causes of CdLS have been reported as
Externí odkaz:
https://doaj.org/article/24454f972f43466bbb86927fcfa7e697
Autor:
Ngoc Khanh Nguyen, Can Thi Bich Ngoc, Huy Hoang Nguyen, Chi Dung Vu, Thu Hien Nguyen, Ngoc-Lan Nguyen
Publikováno v:
Genes & Genomics. 43:115-121
Primordial dwarfism (PD) is a group of genetically heterogeneous disorders related to developmental disabilities occurring in the uterus and prolongs during all stages of life, resulting in short stature, facial deformities and abnormal brain. To det
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::90c6e493bf5d00acd5ca8ec534c5e4e1
https://doi.org/10.1007/s13258-020-01032-5
https://doi.org/10.1007/s13258-020-01032-5
Publikováno v:
Clinica Chimica Acta. 508:9-15
Background Glycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders. Overlapping features between liver GSDs are a major challenge in the clinical diagnosis of them. Genetic testing can provide an early and accurate dia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d0dc20790d4cb98e74e58133f284d74
https://doi.org/10.1016/j.cca.2020.05.010
https://doi.org/10.1016/j.cca.2020.05.010
Autor:
Thu Hien, Nguyen, Ngoc-Lan, Nguyen, Chi Dung, Vu, Can Thi Bich, Ngoc, Ngoc Khanh, Nguyen, Huy Hoang, Nguyen
Publikováno v:
Genesgenomics. 43(2)
Primordial dwarfism (PD) is a group of genetically heterogeneous disorders related to developmental disabilities occurring in the uterus and prolongs during all stages of life, resulting in short stature, facial deformities and abnormal brain.To dete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::381b774dd50af72a9a41b94a38e44704
https://pubmed.ncbi.nlm.nih.gov/33460028
https://pubmed.ncbi.nlm.nih.gov/33460028
Autor:
Chi Dung Vu, Can Thi Bich Ngoc, Duong Chi Thanh, Huy Hoang Nguyen, Ngoc-Lan Nguyen, Nguyen Van Tung
Publikováno v:
Medicina, Vol 56, Iss 2, p 76 (2020)
Medicina
Medicina
Cornelia de Lange Syndrome (CdLS) is a rare congenital genetic disease causing abnormal unique facial phenotypes, several defects in organs and body parts, and mental disorder or intellectual disorder traits. Main causes of CdLS have been reported as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d18e4a55944528a079423e05ab4705d
https://www.mdpi.com/1010-660X/56/2/76
https://www.mdpi.com/1010-660X/56/2/76