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Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Sczakiel, Henrike L; Zhao, Max; Wollert-Wulf, Brigitte; Danyel, Magdalena; Ehmke, Nadja; Stoltenburg, Corinna; Damseh, Nadirah; Al-Ashhab, Motee; Balci, Tugce B; Osmond, Matthew; Andrade, Andrea; Schallner, Jens; Porrmann, Joseph; McDonald, Kimberly; Liao, Mingjuan; Oppermann, Henry; Platzer, Konrad; Dierksen, Nadine; Mojarrad, Majid; Eslahi, Atieh; Bakaeean, Behnaz; Calame, Daniel G; Lupski, James R; Firoozfar, Zahra; Seyedhassani, Seyed Mohammad; Mohammadi, Seyed Ahmad; Anwaar, Najwa; Rahman, Fatima; Seelow, Dominik; Janz, Martin; Horn, Denise; Maroofian, Reza; Boschann, Felix.
Afiliación
  • Sczakiel HL; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.
  • Zhao M; Max Planck Institute for Molecular Genetics, RG Development & Disease, Ihnestr. 63-73, 14195, Berlin, Germany.
  • Wollert-Wulf B; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, Charitéplatz 1, 10117, Berlin, Germany.
  • Danyel M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.
  • Ehmke N; Max Planck Institute for Molecular Genetics, RG Development & Disease, Ihnestr. 63-73, 14195, Berlin, Germany.
  • Stoltenburg C; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.
  • Damseh N; Biology of Malignant Lymphomas, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, 13125, Germany.
  • Al-Ashhab M; Experimental and Clinical Research Center, a cooperation between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and the Charité - Universitätsmedizin Berlin, Berlin, 13125, Germany.
  • Balci TB; Hematology, Oncology and Cancer Immunology, Charité - Universitätsmedizin Berlin, Berlin, 13125, Germany.
  • Osmond M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.
  • Andrade A; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Charitéplatz 1, 10117, Berlin, Germany.
  • Schallner J; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.
  • Porrmann J; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.
  • McDonald K; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Sozialpädiatrisches Zentrum Neuropädiatrie, Augustenburger Platz 1, 13353, Berlin, Germany.
  • Liao M; Department of Pediatrics and Genetics, Al Makassed Hospital and Al-Quds University, Jerusalem, Palestine.
  • Oppermann H; Department of Pediatrics and Genetics, Al Makassed Hospital and Al-Quds University, Jerusalem, Palestine.
  • Platzer K; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, Western University, London, ON, Canada.
  • Dierksen N; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Mojarrad M; Division of Pediatric Neurology, London Health Sciences Centre, Western University, London, ON, Canada.
  • Eslahi A; Department of Sozialpaediatrisches Zentrum, Klinik fuer Kinder und Jugendmedizin, Universitaetsklinikum Dresden, Fetscherstrasse 74, 01307, Dresden, Germany.
  • Bakaeean B; Institute for Clinical Genetics, Universitätsklinikum, Technischen Universität Dresden, Dresden, Germany.
  • Calame DG; Pediatric Neurology, University of Mississippi Medical Center, Jackson, MS, USA.
  • Lupski JR; GeneDx, LLC, Gaithersburg, MD, 20877, USA.
  • Firoozfar Z; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.
  • Seyedhassani SM; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.
  • Mohammadi SA; Evangelisches Krankenhaus Oberhausen, Oberhausen, Germany.
  • Anwaar N; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Rahman F; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Seelow D; Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
  • Janz M; Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Horn D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Maroofian R; Texas Children's Hospital, Houston, TX, 77030, USA.
  • Boschann F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Eur J Hum Genet ; 31(8): 905-917, 2023 08.
Article en En | MEDLINE | ID: mdl-37188825
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Discapacidad Intelectual / Trastornos del Movimiento Tipo de estudio: Prognostic_studies Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article
Texto completo
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XML
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Discapacidad Intelectual / Trastornos del Movimiento Tipo de estudio: Prognostic_studies Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article