Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 7, 2023. (Total: 223846Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 4 (of 4 Records)

Query Trace: Vision and PAX6[original query]
A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient.
Neuroscience letters 2009 Oct 462 (3): 267-71.
Maekawa Motoko, Iwayama Yoshimi, Nakamura Kazuhiko, Sato Miho, Toyota Tomoko, Ohnishi Tetsuo, Yamada Kazuo, Miyachi Taishi, Tsujii Masatsugu, Hattori Eiji, Maekawa Nobuo, Osumi Noriko, Mori Norio, Yoshikawa Tak
Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.
Investigative ophthalmology & visual science 2009 Jun 50 (6): 2581-90.
Hingorani Melanie, Williamson Kathleen A, Moore Anthony T, van Heyningen Veroni
Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia.
Molecular vision 2020 3 26 226-234.
You Bing, Zhang Xiaohui, Xu Ke, Xie Yue, Ye Hanwen, Li Ya
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
TOP