Zobrazeno 1 - 10
of 143
pro vyhledávání: '"NONG, Van Hai"'
Autor:
Tran Huu Dinh, Nguyen Phuong Anh, Dinh Huong Thao, La Duc Duy, Nguyen Duy, Pham Van Quyet, Trinh The Son, Luong Thi Lan Anh, Nguyen Xuan Canh, Nong Van Hai, Nguyen Thuy Duong
Publikováno v:
Medicine; 9/27/2024, Vol. 103 Issue 39, p1-6, 6p
Autor:
Nguyen Thuy Duong, Luong Thi Lan Anh, Nguyen Huu Sau, Nguyen Bao Anh, Miyake Noriko, Nong Van Hai, Matsumoto Naomichi
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract We present a homozygous missense mutation in the COL7A1 gene (NM_000094.4: c.6262G>A, p.G2088R) in a case of inversa recessive dystrophic epidermolysis bullosa (RDEB-I) from a nonconsanguineous Vietnamese family. Although a heterozygous form
Externí odkaz:
https://doaj.org/article/dc56089dd75746099c200cde83041a8e
Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome
Autor:
Nguyen Thuy Duong, Nguyen Phuong Anh, Nguyen Duy Bac, Le Bach Quang, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)
Abstract We describe a case of Cockayne syndrome without photosensitivity in a Vietnamese family. This lack of photosensitivity prevented the establishment of a confirmed medical clinical diagnosis for 16 years. Whole-exome sequencing (WES) identifie
Externí odkaz:
https://doaj.org/article/4f1930f44c7e4793afe832c055eda3be
Publikováno v:
Journal of Biology / TẠp chí Sinh HỌc. Jun2022, Vol. 44 Issue 2, p21-28. 8p.
Publikováno v:
Journal of Biology / TẠp chí Sinh HỌc. Mar2022, Vol. 44 Issue 1, p107-114. 8p.
Publikováno v:
Tạp chí Nghiên cứu Y học. 166:29-35
Autosomal dominant polycystic kidney disease (ADPKD) is a form of polycystic kidney disease (PKD) in which cysts develop within the kidneys, causing the kidneys to enlarge and lose function over time. ADPKD is caused by mutations in two major genes:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cec88252814fd57ada8b834071394c51
https://doi.org/10.52852/tcncyh.v166i5e12.1508
https://doi.org/10.52852/tcncyh.v166i5e12.1508
Autor:
Nguyen Thuy Duong, Luong Thi Lan Anh, Nguyen Huu Sau, Nguyen Bao Anh, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/cdb60e6b9ccb4d139d7df279e4bcfa81
Autor:
Nguyen Dang Ton, Nguyen Duc Thuan, Ma Thi Huyen Thuong, Tran Thi Bich Ngoc, Vu Phuong Nhung, Nguyen Thi Thanh Hoa, Nguyen Hoai Nam, Hoang Thi Dung, Nhu Dinh Son, Nguyen Van Ba, Nguyen Duy Bac, Tran Ngoc Tai, Le Thi Kim Dung, Nguyen Trong Hung, Nguyen Thuy Duong, Nguyen Hai Ha, Nong Van Hai
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background Early‐onset Parkinson's disease (EOPD) refers to that of patients who have been diagnosed or had onset of motor symptoms before age 50, accounting for 4% of Parkinson's disease patients. The PRKN and PINK1 genes, both involved i
Externí odkaz:
https://doaj.org/article/585ba16254974becac38f7c99b75ec93
Autor:
Nguyen Xuan, Nong Van Hai
Publikováno v:
Iranian Journal of Basic Medical Sciences, Vol 21, Iss 1, Pp 3-8 (2018)
Klotho (KL) encodes a single-pass transmembrane protein and is predominantly expressed in the kidney, parathyroid glands, and choroid plexus. Genetic studies on the KL gene have revealed that DNA hypermethylation is one of the major risk factors for
Externí odkaz:
https://doaj.org/article/3820bf212df042d99b5b2ce6db348a75
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.