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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 8, 2024. (Total: 233355Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Ataxia and AHI1[original query]
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Journal of the American Society of Nephrology : JASN 2007 May 18 (5): 1566-75.
Tory Kálmán, Lacoste Tiphanie, Burglen Lydie, Morinière Vincent, Boddaert Nathalie, Macher Marie-Alice, Llanas Brigitte, Nivet Hubert, Bensman Albert, Niaudet Patrick, Antignac Corinne, Salomon Rémi, Saunier Soph
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
Parkinsonism & related disorders 2020 9 80 58-64.
Kim Minkyeong, Kim Ah Reum, Kim Ji Sun, Park Jongkyu, Youn Jinyoung, Ahn Jong Hyeon, Mun Jun Kyu, Lee Chung, Kim Nam-Soon, Kim Nayoung K D, Park Woong-Yang, Cho Jin Wh
Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
Molecular biology reports 2021 6 48 (6): 5339-5345.
Karamzade Arezou, Babaei Meisam, Saberi Mohammad, Golchin Neda, Khalil Nejad Sani Banaei Aysun, Eshaghkhani Yeganeh, Golchehre Zahra, Keramatipour Mohamm
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