Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Autor: Seaby EG; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Godwin A; European Xenopus Resource Centre, School of Environmental and Life Sciences, University of Portsmouth, PO1 2D, Portsmouth, UK., Meyer-Dilhet G; Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR5261, INSERM U1315, Institut NeuroMyoGène, Université Claude Bernard Lyon 1, 69008 Lyon, France., Clerc V; Laboratoire de Biologie et Modélisation de la Cellule, Ecole Normale Supérieure de Lyon, CNRS UMR5239, INSERM U1293, Université Claude Bernard Lyon 1, 69007 Lyon, France., Grand X; Laboratoire de Biologie et Modélisation de la Cellule, Ecole Normale Supérieure de Lyon, CNRS UMR5239, INSERM U1293, Université Claude Bernard Lyon 1, 69007 Lyon, France.; INSERM U1052, CNRS UMR5286, Cancer Research Center of Lyon (CRCL), Université Claude Bernard Lyon 1, 69008 Lyon, France., Fletcher T; European Xenopus Resource Centre, School of Environmental and Life Sciences, University of Portsmouth, PO1 2D, Portsmouth, UK., Monteiro L; Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR5261, INSERM U1315, Institut NeuroMyoGène, Université Claude Bernard Lyon 1, 69008 Lyon, France., Kerkhofs M; Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR5261, INSERM U1315, Institut NeuroMyoGène, Université Claude Bernard Lyon 1, 69008 Lyon, France., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, 40138, Italy., Palombo F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139, Bologna, Italy., Seri M; IRCCS Azienda Ospedaliero-Universitaria di Bologna, U.O. Genetica Medica, 40138 Bologna, Italy., Olivucci G; IRCCS Azienda Ospedaliero-Universitaria di Bologna, U.O. Genetica Medica, 40138 Bologna, Italy., Grippa M; IRCCS Azienda Ospedaliero-Universitaria di Bologna, U.O. Genetica Medica, 40138 Bologna, Italy., Ciaccio C; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., D'Arrigo S; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Iascone M; Laboratorio di genetica Medica, Ospedale papà Giovanni XXIII, 24127 Bergamo, Italy., Bermudez M; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, 01307 Dresden, Germany., Fischer J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, 01307 Dresden, Germany., Di Donato N; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, 01307 Dresden, Germany., Goesswein S; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, 01307 Dresden, Germany., Leung ML; Departments of Pathology and Pediatrics, The Ohio State University, Columbus, OH 43210, USA., Koboldt DC; Department of Pediatrics, The Ohio State University, Columbus, OH 43210, USA., Myers C; Department of Pediatrics and Clinical Genetics, Nationwide Children's Hospital & Ohio State University, Columbus, OH 43210, USA., Arnadottir GA; deCODE Genetics/Amgen, IS-101, Reykjavik, Iceland., Stefansson K; deCODE Genetics/Amgen, IS-101, Reykjavik, Iceland., Sulem P; deCODE Genetics/Amgen, IS-101, Reykjavik, Iceland., Goldberg EM; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Bruel AL; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; INSERM UMR1231 GAD, Université de Bourgogne, 21000 Dijon, France., Tran Mau Them F; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; INSERM UMR1231 GAD, Université de Bourgogne, 21000 Dijon, France., Willems M; University Hospital of Montpellier, 34295 Montpellier, France., Bjornsson HT; Department of Genetic and Molecular Medicine, Landspitali Hospital, IS-105, Reykjavik, Iceland., Hognason HB; Department of Genetic and Molecular Medicine, Landspitali Hospital, IS-105, Reykjavik, Iceland., Thorolfsdottir ET; Department of Genetic and Molecular Medicine, Landspitali Hospital, IS-105, Reykjavik, Iceland., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Zampino G; Paediatric Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Medicine and Surgery School, Università Cattolica del S. Cuore, 00168 Rome, Italy., Onesimo R; Rare Diseases Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS 00168 Rome, Italy., Lachlan K; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, SO16 5YA, UK., Baralle D; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK., Rehm HL; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., O'Donnell-Luria A; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA., Courchet J; Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR5261, INSERM U1315, Institut NeuroMyoGène, Université Claude Bernard Lyon 1, 69008 Lyon, France., Guille M; European Xenopus Resource Centre, School of Environmental and Life Sciences, University of Portsmouth, PO1 2D, Portsmouth, UK., Bourgeois CF; Laboratoire de Biologie et Modélisation de la Cellule, Ecole Normale Supérieure de Lyon, CNRS UMR5239, INSERM U1293, Université Claude Bernard Lyon 1, 69007 Lyon, France., Ennis S; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Oct 15. Date of Electronic Publication: 2024 Oct 15.