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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 10, 2023. (Total: 217827Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Albinism and SLC38A8[original query]
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
American journal of human genetics 2013 Dec 93 (6): 1143-50.
Poulter James A, Al-Araimi Musallam, Conte Ivan, van Genderen Maria M, Sheridan Eamonn, Carr Ian M, Parry David A, Shires Mike, Carrella Sabrina, Bradbury John, Khan Kamron, Lakeman Phillis, Sergouniotis Panagiotis I, Webster Andrew R, Moore Anthony T, Pal Bishwanath, Mohamed Moin D, Venkataramana Anandula, Ramprasad Vedam, Shetty Rohit, Saktivel Murugan, Kumaramanickavel Govindasamy, Tan Alex, Mackey David A, Hewitt Alex W, Banfi Sandro, Ali Manir, Inglehearn Chris F, Toomes Carm
Clinical and genetic variability in children with partial albinism.
Scientific reports 2019 11 9 (1): 16576.
Campbell Patrick, Ellingford Jamie M, Parry Neil R A, Fletcher Tracy, Ramsden Simon C, Gale Theodora, Hall Georgina, Smith Katherine, Kasperaviciute Dalia, Thomas Ellen, Lloyd I Chris, Douzgou Sofia, Clayton-Smith Jill, Biswas Susmito, Ashworth Jane L, Black Graeme C M, Sergouniotis Panagiotis
Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.
Ophthalmic genetics 2021 2 42 (3): 243-251.
Ehrenberg Miriam, Bagdonite-Bejarano Laura, Fulton Anne B, Orenstein Naama, Yahalom Claud
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Ophthalmology 2022 2 129 (6): 708-718.
Kuht Helen J, Maconachie Gail D E, Han Jinu, Kessel Line, van Genderen Maria M, McLean Rebecca J, Hisaund Michael, Tu Zhanhan, Hertle Richard W, Gronskov Karen, Bai Dayong, Wei Aihua, Li Wei, Jiao Yonghong, Smirnov Vasily, Choi Jae-Hwan, Tobin Martin D, Sheth Viral, Purohit Ravi, Dawar Basu, Girach Ayesha, Strul Sasha, May Laura, Chen Fred K, Heath Jeffery Rachael C, Aamir Abdullah, Sano Ronaldo, Jin Jing, Brooks Brian P, Kohl Susanne, Arveiler Benoit, Montoliu Lluis, Engle Elizabeth C, Proudlock Frank A, Nishad Garima, Pani Prateek, Varma Girish, Gottlob Irene, Thomas Mervyn
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