Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Kühn NA"'
Autor:
Deng R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Medico-Salsench E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Ramakrishnan R; Bioscience Program, Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kühn NA; Department of Cell Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van der Linde HC; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lor-Zade S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Albuainain F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Shi Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Yousefi S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Capo I; Department for Histology and Embryology, Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia., van den Herik EM; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Minkelen R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Geeven G; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Mulder MT; Department of Internal Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Ruijter GJG; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lütjohann D; Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Bonn, Germany., Jacobs EH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK., Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK., De Simone L; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Schwaede A; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Kuntz N; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Palculict TB; GeneDx, Gaithersburg, MD, 20877, USA., Abbas S; Department of Biological Science, Dartmouth College, Hanover, NH, USA., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan., AlMuhaizea M; Neuroscience Centre, King Faisal Specialist Hospital and Research Centre (KFSHRC), MBC: 76, Riyadh, 11211, Saudi Arabia., Colak D; Molecular Oncology Department, King Faisal Specialist Hospital and Research Centre (KFSHRC), MBC: 03, Riyadh, 11211, Saudi Arabia., AlQudairy H; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia., Alsagob M; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia.; Applied Genomics Technologies Institute, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia., Pereira C; CENTOGENE, GmbH, 18055, Rostock, Germany., Trunzo R; CENTOGENE, GmbH, 18055, Rostock, Germany., Karageorgou V; CENTOGENE, GmbH, 18055, Rostock, Germany., Bertoli-Avella AM; CENTOGENE, GmbH, 18055, Rostock, Germany., Bauer P; CENTOGENE, GmbH, 18055, Rostock, Germany., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Issa M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Gleeson JG; Departments of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, Rady Children's Institute for Genomic Medicine, San Diego, USA., Willemsen R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kaya N; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia., Arold ST; Bioscience Program, Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, 34090, Montpellier, France., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Sanderson LE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.
Publikováno v:
Acta neuropathologica [Acta Neuropathol] 2023 Aug; Vol. 146 (2), pp. 353-368. Date of Electronic Publication: 2023 Apr 29.
Autor:
Sanderson LE; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; KACST-BWH/Harvard Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia., Almass R; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Al-Ahmadi N; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Department of Biology, Imam Abdulrahman bin Faisal University, Dammam 34212, Kingdom of Saudi Arabia., Najafi M; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany., Al-Muhaizea MA; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Alzaidan H; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., AlDhalaan H; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Perenthaler E; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., van der Linde HC; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Kühn NA; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Antony D; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany., Owaidah TM; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Raskin S; Positivo University Medical School, Curitiba, Parana, 81280-330, Brazil., Vieira LGDR; Universidade da Região de Joinville, Pós-Graduação em Saúde e Meio Ambiente, Joinville, Santa Catarina, 89219-710., Mombach R; Núcleo de Assistência Integral ao Paciente Especial, Prefeitura de Joinvile, Joinvile, Santa Catarina, 89202-450, Brazil., Ahangari N; Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, 9177899191, Mashhad, Iran., Silveira TRD; CENTOGENE GmbH, 18055 Rostock., Ameziane N; CENTOGENE GmbH, 18055 Rostock., Rolfs A; CENTOGENE GmbH, 18055 Rostock.; Medical University of Rostock, 18051 Rostock., Alharbi A; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Sabbagh RM; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., AlAhmadi K; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Alawam B; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Ghebeh H; Stem Cell and Tissue Re-engineering Program, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., AlHargan A; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Albader AA; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Binhumaid FS; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Goljan E; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Mustafa OM; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Aldosary M; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., AlBakheet A; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Alyounes B; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Almutairi F; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Al-Odaib A; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Aksoy DB; Gaziosmanpasa University, School of Medicine, Neurology Dept. Tokat, 8FJH+CW Tokat, Merkez/Tokat, Turkey., Basak AN; Koc University, School of Medicine, Suna and Inan Kirac Foundation, NDAL- KUTTAM, Davutpasa cad. No.4, 34010, Zeytinburnu, İstanbul, Turkey., Palvadeau R; Koc University, School of Medicine, Suna and Inan Kirac Foundation, NDAL- KUTTAM, Davutpasa cad. No.4, 34010, Zeytinburnu, İstanbul, Turkey., Trabzuni D; Department of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 3BG, UK., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, and Baylor Genetics Laboratories, Houston, TX, USA., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, 9G58 + 69 Mashhad, Razavi Khorasan Province, Iran., Meyer BF; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Kingdom of Saudi Arabia.; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Kingdom of Saudi Arabia., Karakas B; Department of Molecular Oncology, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Al-Mohanna F; Department of Cell Biology, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Arold ST; Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Kingdom of Saudi Arabia.; Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, 34090 Montpellier, France., Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Bertoli-Avella AM; CENTOGENE GmbH, 18055 Rostock., Schmidts M; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Kaya N; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Kingdom of Saudi Arabia.
Publikováno v:
Brain : a journal of neurology [Brain] 2021 Apr 12; Vol. 144 (3), pp. 769-780.