Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Gaudio DD"'
Autor:
Raca G; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Gaudio DD; Department of Human Genetics, The University of Chicago, Chicago, IL, USA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jan; Vol. 23 (1), pp. 240-242. Date of Electronic Publication: 2020 Aug 20.
Autor:
Mochel F; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013 Paris, France.; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique and Centre de Référence Neurométabolique Adulte, F-75013, Paris, France., Rastetter A; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013 Paris, France., Ceulemans B; Division of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Yang S; GeneDx, Gaithersburg, MD 20877, USA., Shinde DN; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA., Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Lopergolo D; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Mari F; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Benetti E; Department of Medical Biotechnologies, University of Siena, Siena, Italy., Canitano R; Division of Child and Adolescent Neuropsychiatry, University Hospital of Siena, Siena, Italy., Waisfisz Q; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Plomp AS; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Huisman SA; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.; Prinsenstichting, Purmerend, The Netherlands., Wilson GN; Department of Pediatrics, Texas Tech University Health Science Center, Lubbock, Texas, USA., Cathey SS; Greenwood Genetic Center, Greenwood, South Carolina, 29646, USA., Louie RJ; Department of Human Genetics, University of Chicago, Chicago, IL, 60637, USA., Gaudio DD; Department of Human Genetics, University of Chicago, Chicago, IL, 60637, USA., Waggoner D; Department of Human Genetics, University of Chicago, Chicago, IL, 60637, USA., Kacker S; Department of Pediatrics, Section of Child Neurology, University of Chicago, Chicago, IL, 60637, USA., Nugent KM; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Bruel AL; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de référence maladies rares 'déficiences intellectuelles de causes rares', Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Thevenon J; Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, 38700 La Tronche, France.; INSERM 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Université Grenoble Alpes, 38706 Grenoble, France., Ehmke N; Institute for Human Genetics and Medical Genetics, Charité - Universitaetsmedizin Berlin, Berlin, Germany., Horn D; Institute for Human Genetics and Medical Genetics, Charité - Universitaetsmedizin Berlin, Berlin, Germany., Holtgrewe M; Core Unit Bioinformatics - CUBI, Berlin Institute of Health (BIH), Berlin, Germany., Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147 Essen, Germany., Kamphausen SB; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium., Dalle C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013 Paris, France., Depienne C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013 Paris, France.; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147 Essen, Germany.
Publikováno v:
Brain : a journal of neurology [Brain] 2020 Dec 01; Vol. 143 (12), pp. 3564-3573.
Autor:
Azulay AR; School of Electrical and Computer Engineering, Ben-Gurion University, Beer Sheva, 8410501, Israel., Turkulets Y; School of Electrical and Computer Engineering, Ben-Gurion University, Beer Sheva, 8410501, Israel., Gaudio DD; Department of Materials Science and Engineering, University of Michigan, 2300 Hayward, St., Ann Arbor, 48109, MI, USA., Goldman RS; Department of Materials Science and Engineering, University of Michigan, 2300 Hayward, St., Ann Arbor, 48109, MI, USA., Shalish I; School of Electrical and Computer Engineering, Ben-Gurion University, Beer Sheva, 8410501, Israel. shalish@bgu.ac.il.
Publikováno v:
Scientific reports [Sci Rep] 2020 Apr 16; Vol. 10 (1), pp. 6554. Date of Electronic Publication: 2020 Apr 16.
Autor:
Johnson AK; Department of Human Genetics, University of Chicago, 5841 S Maryland MC0077, Chicago, IL 60637, USA., Gaudio DD; Department of Human Genetics, University of Chicago, 5841 S Maryland MC0077, Chicago, IL 60637, USA.
Publikováno v:
Personalized medicine [Per Med] 2014 Mar; Vol. 11 (2), pp. 155-165.