Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Nong Van H"'
Publikováno v:
BMC Evolutionary Biology. 2018 Apr 03;18(1):44
Externí odkaz:
http://hdl.handle.net/10852/61482
https://www.duo.uio.no/bitstream/handle/10852/61482/1/12862_2018_Article_1160.pdf
https://www.duo.uio.no/bitstream/handle/10852/61482/1/12862_2018_Article_1160.pdf
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
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
Autor:
Pham Le Bich Hang, Nguyen Thi Thanh Hoa, Dao Duc Phong, Mac Thi Thom, Nguyen Dang Ton, Le Thi Thu Hien, Nong Van Hai, Nguyen Hai Ha
Publikováno v:
Journal of Clinical and Translational Endocrinology Case Reports, Vol 14, Iss , Pp - (2019)
Multiple endocrine neoplasia type 2A (MEN 2A) is a rare, autosomal dominant disease. It is characterized by complete penetrance of medullary thyroid carcinoma (MTC), lower prevalence of pheochromocytoma, hyperparathyroidism, and sometimes cutaneous l
Externí odkaz:
https://doaj.org/article/fea111e4dc1846dc942d2347d73f68f4
Autor:
Bui Manh Minh, Nguyen Thuy Linh, Ha Hong Hanh, Le Thi Thu Hien, Nguyen Xuan Thang, Nong Van Hai, Huynh Thi Thu Hue
Publikováno v:
Agronomy, Vol 9, Iss 2, p 62 (2019)
Maize (Zea mays) is a major cereal crop worldwide, and there is increasing demand for maize cultivars with enhanced tolerance to desiccation. Late embryogenesis abundant (LEA) proteins group 5C is involved in plants’ responses to various osmotic st
Externí odkaz:
https://doaj.org/article/5858dda2183540cd91ccd25633a6fd5f
Autor:
Nguyen Thuy Duong, Nguyen Thy Ngoc, Nguyen Tran Minh Thang, Bach Thi Hoai Phuong, Nguyen Thanh Nga, Nguyen Doan Tinh, Do Hai Quynh, Nguyen Dang Ton, Nong Van Hai
Publikováno v:
Medicina, Vol 55, Iss 1, p 8 (2019)
Background and objective: Gout is a common form of inflammatory arthritis caused by the crystallization of uric acid. Previous studies have demonstrated that the genetic predisposition of gout varies in different ethnic populations. However the assoc
Externí odkaz:
https://doaj.org/article/498814aa5aa44afc960ceb4e9fbf5d87
Publikováno v:
BMC Evolutionary Biology; 4/3/2018, Vol. 18 Issue 1, p1-1, 1p