Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Valkanas E"'
Autor:
Dworschak GC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de.; Department of Pediatrics, University Hospital Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de., Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Kalanithy JC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Mingardo E; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Erdem HB; Department of Medical Genetics, University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey., Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Karaca E; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, TX, USA., Dakal TC; Genome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India., Dhabhai B; Genome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India., Dabbagh O; Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Salpietro V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Sultan T; Department of Pediatric Neurology, Institute of Child Health, The Children's Hospital Lahore, Lahore, Pakistan., Haider S; Department of Paediatric Medicine, Wah Medical College, Rawalpindi, Pakistan., Bibi F; University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi, Pakistan., Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Guella I; Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC, Canada., Demos M; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada., Keren B; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Buratti J; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Charles P; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Nava C; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.; Institut du Cerveau et de la Moelle épinière, Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, Paris, France., Héron D; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Heide S; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Valkanas E; Center for Mendelian Genomics, The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA., Waddell LB; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Jones KJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Oates EC; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; School of Biotechnology and Biomolecular Sciences, Faculty of Science, The University of New South Wales, Sydney, NSW, Australia., Cooper ST; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Children's Medical Research Institute, Westmead, NSW, Australia., MacArthur D; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Syrbe S; Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Ziegler A; Division of Pediatric Neurology and Metabolic Medicine, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Okur V; Department of Pediatrics, Columbia University, New York, NY, USA., Chung WK; Department of Pediatrics, Columbia University, New York, NY, USA., O'Shea SA; Department of Neurology, Columbia University, New York, NY, USA., Alcalay R; Department of Neurology, Columbia University, New York, NY, USA., Fahn S; Department of Neurology, Columbia University, New York, NY, USA., Mark PR; Division of Medical Genetics, Helen DeVos Children's Hospital Grand Rapids, New York, MI, USA., Guerrini R; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Vetro A; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Hudson B; GeneDx, Gaithersburg, MD, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA., Hoganson GE; Department of Pediatrics, University of Illinois, College of Medicine, Chicago, IL, USA., Burton JE; Department of Pediatrics, University of Illinois, College of Medicine, Peoria, IL, USA., McEntagart M; South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London, United Kingdom., Lindenberg T; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany., Yilmaz Ö; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Odermatt B; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Section of Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Reutter H; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn, Bonn, Germany.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Sep; Vol. 23 (9), pp. 1715-1725. Date of Electronic Publication: 2021 May 30.
Autor:
Marchegiani S; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20892, USA., Davis T; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Tessadori F; Hubrecht Institute-KNAW and University Medical Centre Utrecht, 3584 CT Utrecht, the Netherlands., van Haaften G; Department of Medical Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands., Brancati F; Department of Medical, Oral, and Biotechnological Sciences, University of G. d' Annunzio Chieti and Pescara, Chieti 66100, Italy., Hoischen A; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Huang H; Department of Molecular, Cell, and Developmental Biology, University of California, Los Angeles, Los Angeles, CA 90095, USA., Valkanas E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Pusey B; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Schanze D; Medizinische Fakultät und Universitätsklinikum Magdeburg, Institute of Human Genetics, 39120 Magdeburg, Germany., Venselaar H; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute/NIH, Bethesda, MD 20892, USA., Tifft CJ; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute/NIH, Bethesda, MD 20892, USA., Zerfas PM; Office of Research Services, Division of Veterinary Resources, NIH, Bethesda, MD 20892, USA., Zambruno G; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IDI-IRCCS, Rome 00167, Italy., Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14667, Iran., Sabbagh-Kermani F; Kerman University of Medical Sciences, Kerman 76175, Iran., Lee J; National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD 20892, USA., Tsokos MG; Laboratory of Pathology, National Cancer Institute, NIH, Bethesda, MD 20892, USA., Lee CC; Laboratory of Pathology, National Cancer Institute, NIH, Bethesda, MD 20892, USA., Ferraz V; Departamento de Genetica, Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, Sao Paulo 14049, Brazil., da Silva EM; Departamento de Genetica, Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, Sao Paulo 14049, Brazil., Stevens CA; Department of Medical Genetics, T.C. Thompson Children's Hospital, Chattanooga, TN 37403, USA., Roche N; Department of Plastic and Reconstructive Surgery, University Hospital of Ghent, Ghent 9000, Belgium., Bartsch O; Institute of Human Genetics, Johannes Gutenberg University, Mainz 55131, Germany., Farndon P; Clinical Genetics Unit, Birmingham Women's Healthcare Trust, Birmingham B15 2TG, UK., Bermejo-Sanchez E; ECEMC (Spanish Collaborative Study of Congenital Malformations), CIAC, Instituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III; and CIBER de Enfermedades Raras (CIBERER)-U724, Madrid 28029, Spain., Brooks BP; Unit on Pediatric, Developmental, and Genetic Eye Disease, National Eye Institute, NIH, Bethesda, MD 20892, USA., Maduro V; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Dallapiccola B; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy., Ramos FJ; Unidad de Genética Médica, Servicio de Pediatría, GCV-CIBERER Hospital Clínico Universitario 'Lozano Blesa,' Facultad de Medicina, Universidad de Zaragoza, 50009 Zaragoza, Spain., Chung HY; Department of Paediatrics and Adolescent Medicine, Centre for Genomic Sciences, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Le Caignec C; Service de genetique medicale, CHU Nantes, 44093 Nantes, France and Inserm, UMR957, Faculté de Médecine, 44093 Nantes, France., Martins F; Special Care Dentistry Center, Department of Stomatology, School of Dentistry, University of São Paulo, São Paulo 05508-070, Brazil., Jacyk WK; Department of Dermatology, University of Pretoria, Pretoria 0028, Republic of South Africa., Mazzanti L; Department of Pediatrics, S. Orsola-Malpighi Hospital University of Bologna, 40138 Bologna, Italy., Brunner HG; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, PO Box 5800, 6202AZ Maastricht, the Netherlands., Bakkers J; Hubrecht Institute-KNAW and University Medical Centre Utrecht, 3584 CT Utrecht, the Netherlands., Lin S; Department of Molecular, Cell, and Developmental Biology, University of California, Los Angeles, Los Angeles, CA 90095, USA., Malicdan MC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute/NIH, Bethesda, MD 20892, USA. Electronic address: malicdanm@mail.nih.gov., Boerkoel CF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute/NIH, Bethesda, MD 20892, USA. Electronic address: gahlw@helix.nih.gov., de Vries BB; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., van Haelst MM; Department of Medical Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands., Zenker M; Medizinische Fakultät und Universitätsklinikum Magdeburg, Institute of Human Genetics, 39120 Magdeburg, Germany., Markello TC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2015 Jul 02; Vol. 97 (1), pp. 99-110. Date of Electronic Publication: 2015 Jun 25.