Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Chi Dung Vu"'
Autor:
Nam‐Chung Tran, Tuan Anh Nguyen, Thanh Dat Ta, Thinh Huy Tran, Phuoc‐Dung Nguyen, Chi Dung Vu, Van‐Hung Nguyen, The‐Hung Bui, Thanh Van Ta, Van Khanh Tran
Publikováno v:
Clinical Case Reports, Vol 11, Iss 3, Pp n/a-n/a (2023)
Abstract Limb‐girdle muscular dystrophy‐type 2C (LGMD2C) is caused by mutations in the SGCG gene. Here, we report a case of a 26‐year‐old male who had inactive walking due to proximal muscle weakness. Targeted next‐generation sequencing fou
Externí odkaz:
https://doaj.org/article/a0cf2653b0764123ace118f3fbae2f31
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: Ornithine transcarbamylase deficiency (OTCD) is an X- linked recessive disorder and the most common error of the urea cycle, caused by the mutations in the OTC gene. Due to X-inactivation, 15–20% of female carriers present symptoms of O
Externí odkaz:
https://doaj.org/article/16998bda1eb84ebc9b5892263acd0a41
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:
Duc Quan Nguyen, Thi Bich Ngoc Can, Chi Dung Vu, Thi Anh Thuong Tran, Ngoc Lan Nguyen, Thi Kim Lien Nguyen, Van Tung Nguyen, Thanh Hien Nguyen, Thi Huong Giang Tran, Huy Hoang Nguyen
Publikováno v:
Medicine; 9/6/2024, Vol. 103 Issue 36, p1-4, 4p
Autor:
Nam‐Chung Tran, Tuan Anh Nguyen, Thanh Dat Ta, Thinh Huy Tran, Phuoc‐Dung Nguyen, Chi Dung Vu, Van‐Hung Nguyen, The‐Hung Bui, Thanh Van Ta, Van Khanh Tran
Publikováno v:
Clinical Case Reports. 11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f90d84cc700c680627fe08944c0c01b
https://doi.org/10.1002/ccr3.7025
https://doi.org/10.1002/ccr3.7025
Autor:
Thi Chi Mai, Tran, Thi Ngoc Anh, Tran, Hoang Bich Nga, Le, Viet Hoa, Nguyen, Minh Dien, Tran, Chi Dung, Vu, Ronda F, Greaves
Publikováno v:
Clinical Chemistry and Laboratory Medicine (CCLM). 60:1225-1233
Objectives The 5α-reductase-type-2 deficiency (5ARD2) is a rare autosomal recessive 46,XY disorder of sex development caused by the mutated 5α-reductase type 2 (SRD5A2) gene. In this disease, defective conversion of testosterone to dihydrotestoster
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c7a5a08aec4c38c78e79ed3e648720
https://doi.org/10.1515/cclm-2022-0272
https://doi.org/10.1515/cclm-2022-0272
Autor:
Van Khanh Tran, Chi Dung Vu, Hai Anh Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Ngoc Lan, Huy Thinh Tran, Nguyen Huy Hoang
Publikováno v:
Medicine; 10/27/2023, Vol. 102 Issue 43, p1-5, 5p
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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