Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Syndrome and BBS9[original query] |
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Common FSNP variants of fourteen Bardet-Biedl syndrome genes and adult body mass. Obesity (Silver Spring, Md.) 2013 Aug 21 (8): 1684-9. Birk Ruth Z, Ermakov Sergey, Livshits Grego |
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 |
Nonsyndromic craniosynostosis: novel coding variants. Pediatric research 2019 1 85 (4): 463-468. Sewda Anshuman, White Sierra R, Erazo Monica, Hao Ke, García-Fructuoso Gemma, Fernández-Rodriguez Ivette, Heuzé Yann, Richtsmeier Joan T, Romitti Paul A, Reva Boris, Jabs Ethylin Wang, Peter In |
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey. Annals of human genetics 2020 7 85 (1): 27-36. Gumus Evren, Tuncez Ebru, Oz Ozlem, Saka Guvenc Mer |
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 |
Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians. Obesity (Silver Spring, Md.) 2021 2 29 (4): 748-754. Day Samantha E, Muller Yunhua L, Koroglu Cigdem, Kobes Sayuko, Wiedrich Kim, Mahkee Darin, Kim Hye In, Van Hout Cris, Gosalia Nehal, Ye Bin, , Shuldiner Alan R, Knowler William C, Hanson Robert L, Bogardus Clifton, Baier Leslie |
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure. Kidney international reports 2023 10 8 (10): 2126-2135. Yishay Ben-Moshe, Omer Shlomovitz, Danit Atias-Varon, Orly Haskin, Efrat Ben-Shalom, Hadas Shasha Lavsky, Oded Volovelsky, Shrikant Mane, Dror Ben-Ruby, Guy Chowers, Karl Skorecki, Yael Borovitz, Maayan Kagan, Nofar Mor, Yulia Khavkin, Shimrit Tzvi-Behr, Shirley Pollack, Moran Plonsky Toder, Michael Geylis, Aviad Schnapp, Rachel Becker-Cohen, Irith Weissman, Ruth Schreiber, Miriam Davidovits, Yaacov Frishberg, Daniella Magen, Ortal Barel, Asaf Vivan |
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- Page last updated:Mar 25, 2024
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