Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: RNF135[original query] |
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RNF135 mutations are not present in patients with Sotos syndrome-like features. American journal of medical genetics. Part A 2009 Feb 149A (4): 4. Visser R, Koelma N, Vijfhuizen L, van der Wielen MJ, Kant SG, Breuning MH, Wit JM, Losekoot M |
Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism. Psychiatric genetics 2015 Sep . Tastet Julie, Decalonne Loïc, Marouillat Sylviane, Malvy Joëlle, Thépault Rose-Anne, Toutain Annick, Paubel Agathe, Tabagh Refaat, Bénédetti Hélène, Laumonnier Frédéric, Barthélémy Catherine, Bonnet-Brilhault Frédérique, Andres Christian R, Vourc'h Patri |
Clinical and molecular characterization of neurofibromatosis in southern Brazil. Expert review of molecular diagnostics 2018 Apr 1-10. Rosset Clévia, Vairo Filippo, Cristina Bandeira Isabel, Fonini Maievi, Netto Cristina Brinckmann Oliveira, Ashton-Prolla Patric |
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. American journal of human genetics 2019 1 104 (2): 275-286. Wright Caroline F, West Ben, Tuke Marcus, Jones Samuel E, Patel Kashyap, Laver Thomas W, Beaumont Robin N, Tyrrell Jessica, Wood Andrew R, Frayling Timothy M, Hattersley Andrew T, Weedon Michael |
Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot. Journal of thoracic disease 2022 Aug 14 (8): 3008-3015. Pan Yu, Liu Manli, Zhang Songsong, Mei Huaxian, Wu Ji |
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