Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Aldeen HS"'
Autor:
Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA., Vona B; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, Tübingen, 72076, Germany., Lau T; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Aldeen HS; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace London, London, UK., Rocca C; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Noureldeen MM; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt., Saad AK; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA., Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Zifarelli G; Centogene GmbH, Rostock, Germany., Gotkhindikar A; Bioinformatics Centre, S. P. Pune University, Pune, India., Wentzensen IM; GeneDx, Gaithersburg, MD, 20877, USA., Liao M; GeneDx, Gaithersburg, MD, 20877, USA., Cork EE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Varshney P; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA., Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Mohammadi MH; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran., Rad A; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, Tübingen, 72076, Germany., Neira J; Department of Human Genetics, Emory University, Atlanta, GA, 30322, USA., Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Knopp C; Institute for Human Genetics and Genomic Medicine, RWTH Aachen University, Pauwelsstr. 30, Aachen, 52074, Germany., Kurth I; Institute for Human Genetics and Genomic Medicine, RWTH Aachen University, Pauwelsstr. 30, Aachen, 52074, Germany., Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA., Smith R; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA., Abdalla A; Department of Pediatric Endocrinology, Gaafar Ibn Auf Children's Tertiary Hospital, Khartoum, Sudan., Haaf T; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany., Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Joshi M; Bioinformatics Centre, S. P. Pune University, Pune, India., Chung WK; Department of Pediatrics, Boston Children's Hospitaland, Harvard Medical School , Boston, MA, USA., Moreno-De-Luca A; Department of Diagnostic Radiology, Kingston Health Sciences Centre, Queen's University, Kingston, ON, Canada., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK. r.maroofian@ucl.ac.uk., Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA. gaurav-varshney@omrf.org.
Publikováno v:
Genome medicine [Genome Med] 2023 Nov 29; Vol. 15 (1), pp. 102. Date of Electronic Publication: 2023 Nov 29.
Autor:
Saffari A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital, Heidelberg, Germany., Kellner M; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Jordan C; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Rosengarten H; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Mo A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Zhang B; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; ICCTR Biostatistics and Research Design Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Strelko O; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Davis MY; Department of Neurology, University of Washington, Seattle, WA, USA.; Department of Neurology, VA Puget Sound Healthcare System, Seattle, WA, USA., Yoshikura N; Department of Neurology, Gifu University Graduate School of Medicine, Gifu, Japan., Futamura N; Department of Neurology, National Hospital Organization Hyogo-Chuo National Hospital, Ohara, Sanda, Japan., Takeuchi T; Department of Neurology, Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Aichi, Japan., Nabatame S; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Ishiura H; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Tsuji S; Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan., Aldeen HS; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Cali E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Rocca C; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Assmann B; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital, Heidelberg, Germany., Yoon G; Divisions of Clinical and Metabolic Genetics and Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada., Trombetta BA; Alzheimer's Clinical and Translational Research Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Kivisäkk P; Alzheimer's Clinical and Translational Research Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Eichler F; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Nan H; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan., Takiyama Y; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan.; Department of Neurology, Fuefuki Central Hospital, Yamanashi, Japan., Tessa A; Department of Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy., Santorelli FM; Department of Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy., Sahin M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Blackstone C; Movement Disorders Division, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Yang E; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Schüle R; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital, Boston, MA, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 May 02; Vol. 146 (5), pp. 2003-2015.