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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Disease and ARL6[original query]
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
American journal of human genetics 2016 Aug 99 (2): 318-36.
Lindstrand Anna, Frangakis Stephan, Carvalho Claudia M B, Richardson Ellen B, McFadden Kelsey A, Willer Jason R, Pehlivan Davut, Liu Pengfei, Pediaditakis Igor L, Sabo Aniko, Lewis Richard Alan, Banin Eyal, Lupski James R, Davis Erica E, Katsanis Nichol
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Molecular genetics & genomic medicine 2019 11 8 (1): .
Zenteno Juan C, García-Montaño Leopoldo A, Cruz-Aguilar Marisa, Ronquillo Josué, Rodas-Serrano Agustín, Aguilar-Castul Luis, Matsui Rodrigo, Vencedor-Meraz Carlos I, Arce-González Rocío, Graue-Wiechers Federico, Gutiérrez-Paz Mario, Urrea-Victoria Tatiana, de Dios Cuadras Ulises, Chacón-Camacho Oscar
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes.
Genes 2020 1 10 (12): .
Jaffal Lama, Joumaa Wissam H, Assi Alexandre, Helou Charles, Cherfan George, Zibara Kazem, Audo Isabelle, Zeitz Christina, El Shamieh Sa
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