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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 - 4 (of 4 Records)

Query Trace: Syndrome 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
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.
Clinical genetics 2020 5 98 (2): 166-171.
Gouronc Aurélie, Zilliox Vincent, Jacquemont Marie-Line, Darcel Françoise, Leuvrey Anne-Sophie, Nourisson Elsa, Antin Manuela, Alessandri Jean-Luc, Doray Bérénice, Gueguen Paul, Payet Frédérique, Randrianaivo Hanitra, Stoetzel Corinne, Scheidecker Sophie, Flodrops Hugues, Dollfus Hélène, Muller Je
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
The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.
Genes 2024 6 15 (6): .
Doaa Milibari, Sawsan R Nowilaty, Rola Ba-Abb
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