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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

Autor: Simons C; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia., Rash LD; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia., Crawford J; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia., Ma L; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia., Cristofori-Armstrong B; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia., Miller D; 1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Ru K; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia., Baillie GJ; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia., Alanay Y; Pediatric Genetics, Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey., Jacquinet A; Center for Human Genetics, Centre Hospitalier Universitaire and University of Liège, Liège, Belgium., Debray FG; Center for Human Genetics, Centre Hospitalier Universitaire and University of Liège, Liège, Belgium., Verloes A; 1] Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Robert Debré Hospital, Paris, France. [2] INSERM UMR 1141, Robert Debré Hospital, Paris, France., Shen J; Medical Genetics and Metabolism, Children's Hospital Central California, Madera, California, USA., Yesil G; Department of Medical Genetics, Bezmialem Vakif University School of Medicine, Istanbul, Turkey., Guler S; Department of Medical Genetics, Bezmialem Vakif University School of Medicine, Istanbul, Turkey., Yuksel A; Department of Medical Genetics, Bezmialem Vakif University School of Medicine, Istanbul, Turkey., Cleary JG; Real Time Genomics, Ltd., Hamilton, New Zealand., Grimmond SM; 1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Wolfson Wohl Cancer Research Centre, Institute for Cancer Sciences, University of Glasgow, Glasgow, UK., McGaughran J; 1] Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia. [2] School of Medicine, The University of Queensland, Brisbane, Queensland, Australia., King GF; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia., Gabbett MT; 1] Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia. [2] School of Medicine, Griffith University, Gold Coast, Queensland, Australia., Taft RJ; 1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Department of Integrated Systems Biology, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [3] Department of Pediatrics, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [4] Illumina, Inc., San Diego, California, USA.

Publikováno v: Nature genetics [Nat Genet] 2015 Jan; Vol. 47 (1), pp. 73-7. Date of Electronic Publication: 2014 Nov 24.

Suregene, a scalable system for automated term disambiguation of gene and protein names.

Autor: Podowski RM; Karolinska Institutet, SE-171 77 Stockholm, Sweden. rpodowski@cmmt.ubc.ca, Cleary JG, Goncharoff NT, Amoutzias G, Hayes WS

Publikováno v: Journal of bioinformatics and computational biology [J Bioinform Comput Biol] 2005 Jun; Vol. 3 (3), pp. 743-70.