Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Intellectual Disability and AUTS2[original query] |
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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS genetics 2010 May 6 (5): e1000962. Mefford Heather C, Muhle Hiltrud, Ostertag Philipp, von Spiczak Sarah, Buysse Karen, Baker Carl, Franke Andre, Malafosse Alain, Genton Pierre, Thomas Pierre, Gurnett Christina A, Schreiber Stefan, Bassuk Alexander G, Guipponi Michel, Stephani Ulrich, Helbig Ingo, Eichler Evan |
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. American journal of human genetics 2013 Feb 92 (2): 210-20. Beunders Gea, Voorhoeve Els, Golzio Christelle, Pardo Luba M, Rosenfeld Jill A, Talkowski Michael E, Simonic Ingrid, Lionel Anath C, Vergult Sarah, Pyatt Robert E, van de Kamp Jiddeke, Nieuwint Aggie, Weiss Marjan M, Rizzu Patrizia, Verwer Lucilla E N I, van Spaendonk Rosalina M L, Shen Yiping, Wu Bai-lin, Yu Tingting, Yu Yongguo, Chiang Colby, Gusella James F, Lindgren Amelia M, Morton Cynthia C, van Binsbergen Ellen, Bulk Saskia, van Rossem Els, Vanakker Olivier, Armstrong Ruth, Park Soo-Mi, Greenhalgh Lynn, Maye Una, Neill Nicholas J, Abbott Kristin M, Sell Susan, Ladda Roger, Farber Darren M, Bader Patricia I, Cushing Tom, Drautz Joanne M, Konczal Laura, Nash Patricia, de Los Reyes Emily, Carter Melissa T, Hopkins Elizabeth, Marshall Christian R, Osborne Lucy R, Gripp Karen W, Thrush Devon Lamb, Hashimoto Sayaka, Gastier-Foster Julie M, Astbury Caroline, Ylstra Bauke, Meijers-Heijboer Hanne, Posthuma Danielle, Menten Björn, Mortier Geert, Scherer Stephen W, Eichler Evan E, Girirajan Santhosh, Katsanis Nicholas, Groffen Alexander J, Sistermans Erik |
Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients. Frontiers in genetics 2019 5 10 434. Balicza Péter, Varga Noémi Ágnes, Bolgár Bence, Pentelényi Klára, Bencsik Renáta, Gál Anikó, Gézsi András, Prekop Csilla, Molnár Viktor, Molnár Mária Jud |
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