Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Rodríguez de los Santos, Miguel"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Kornak, Uwe, Saha, Namrata, Keren, Boris, Neumann, Alexander, Taylor Tavares, Ana Lisa, Piard, Juliette, Kopp, Johannes, Rodrigues Alves, João Guilherme, Rodríguez de los Santos, Miguel, El Choubassi, Naji, Ehmke, Nadja, Jäger, Marten, Spielmann, Malte, Pantel, Jean Tori, Lejeune, Elodie, Fauler, Beatrix, Mielke, Thorsten, Hecht, Jochen, Meierhofer, David, Strom, Tim M., Laugel, Vincent, Brice, Alexis, Mundlos, Stefan, Bertoli-Avella, Aida, Bauer, Peter, Heyd, Florian, Boute, Odile, Dupont, Juliette, Depienne, Christel, Van Maldergem, Lionel, Fischer-Zirnsak, Björn
Publikováno v:
Genetics in Medicine; September 2022, Vol. 24 Issue: 9 p1927-1940, 14p
Autor:
Kornak U; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany. Electronic address: uwe.kornak@med.uni-goettingen.de., Saha N; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies, Charité-Universtitätsmedizin Berlin, Germany; Max Planck International Research Network on Aging, Max Planck Society, Rostock, Germany., Keren B; Department of Genetics, DMU BioGem, Assistance Publique - Hôpitaux de Paris, Hôpital Universitaire Pitié-Salpêtrière, Paris, France., Neumann A; Laboratory of RNA Biochemistry, Institute of Chemistry and Biochemistry, Freie Universität Berlin, Berlin, Germany; Omiqa Bioinformatics, Berlin, Germany., Taylor Tavares AL; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Genomics England, London, United Kingdom., Piard J; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France. Electronic address: jpiard@chu-besancon.fr., Kopp J; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Institute of Chemistry and Biochemistry, Department of Biology, Chemistry and Pharmacy, Freie Universität Berlin, Berlin, Germany., Rodrigues Alves JG; Serviço de Genética, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospital Universitário Lisboa Norte, Lisboa, Portugal., Rodríguez de Los Santos M; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies, Charité-Universtitätsmedizin Berlin, Germany., El Choubassi N; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Ehmke N; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany., Jäger M; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; BIH Genomics Core Unit, Berlin Institute of Health (BIH), Berlin, Germany., Spielmann M; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Pantel JT; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany., Lejeune E; Department of Genetics, DMU BioGem, Assistance Publique - Hôpitaux de Paris, Hôpital Universitaire Pitié-Salpêtrière, Paris, France., Fauler B; Microscopy and Cryo-electron Microscopy Group, Max Planck Institute for Molecular Genetics, Berlin, Germany., Mielke T; Microscopy and Cryo-electron Microscopy Group, Max Planck Institute for Molecular Genetics, Berlin, Germany., Hecht J; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain., Meierhofer D; Mass-Spectrometry Facility, Max Planck Institute for Molecular Genetics, Berlin, Germany., Strom TM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany., Laugel V; Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Brice A; Department of Genetics, DMU BioGem, Assistance Publique - Hôpitaux de Paris, Hôpital Universitaire Pitié-Salpêtrière, Paris, France; Institut du Cerveau - Paris Brain Institute - ICM, Inserm, Centre National de la Recherche Scientifique, Hôpital Pitié-Salpêtrière, Sorbonne Université, Paris, France., Mundlos S; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Bertoli-Avella A; CENTOGENE GmbH, Rostock, Germany., Bauer P; CENTOGENE GmbH, Rostock, Germany; Department of Medicine Clinic III, Hematology, Oncology and Palliative Medicine, Rostock University Medical Center, Rostock, Germany., Heyd F; Laboratory of RNA Biochemistry, Institute of Chemistry and Biochemistry, Freie Universität Berlin, Berlin, Germany., Boute O; Génétique Clinique, Centre Hospitalier Universitaire de Lille, Hôpital Jeanne de Flandre, Lille, France. Electronic address: odile.boute@chru-lille.fr., Dupont J; Serviço de Genética, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospital Universitário Lisboa Norte, Lisboa, Portugal. Electronic address: juliette.dupont@chln.min-saude.pt., Depienne C; Institut du Cerveau - Paris Brain Institute - ICM, Inserm, Centre National de la Recherche Scientifique, Hôpital Pitié-Salpêtrière, Sorbonne Université, Paris, France; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France; Center of Clinical investigation 1431, National Institute of Health and Medical Research (INSERM), CHU, Besancon, France., Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany. Electronic address: bjoern.fischer@charite.de.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Sep; Vol. 24 (9), pp. 1927-1940. Date of Electronic Publication: 2022 Jun 07.
Autor:
Rodríguez de Los Santos M; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Berlin-Brandenburg School for Regenerative Therapies, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany., Rivalan M; Animal Outcome Core Facility of the NeuroCure Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; Institute of Cognitive Neurobiology, Humboldt University, 10117 Berlin, Germany., David FS; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany.; Institute of Human Genetics, Faculty of Medicine, University Hospital Bonn, 53127 Bonn, Germany., Stumpf A; Neuroscience Research Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany., Pitsch J; Section for Translational Epilepsy Research, Department of Neuropathology, University Hospital Bonn, 53127 Bonn, Germany.; Department of Epileptology, University Hospital Bonn, 53127 Bonn, Germany., Tsortouktzidis D; Section for Translational Epilepsy Research, Department of Neuropathology, University Hospital Bonn, 53127 Bonn, Germany., Velasquez LM; Neuroscience Research Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany., Voigt A; Neuroscience Research Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany., Schilling K; Anatomisches Institut, Anatomie und Zellbiologie, Faculty of Medicine, University of Bonn, 53115 Bonn, Germany., Mattei D; Institute of Veterinary Pharmacology and Toxicology, University of Zürich (UZH), 8057 Zürich, Switzerland., Long M; Animal Outcome Core Facility of the NeuroCure Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; Institute of Cognitive Neurobiology, Humboldt University, 10117 Berlin, Germany., Vogt G; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany., Fischer-Zirnsak B; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Wittler L; Department Developmental Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Timmermann B; Sequencing Core Facility, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032.; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032., Horn D; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany., Mundlos S; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Kornak U; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany., Becker AJ; Section for Translational Epilepsy Research, Department of Neuropathology, University Hospital Bonn, 53127 Bonn, Germany., Schmitz D; Neuroscience Research Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany., Winter Y; Animal Outcome Core Facility of the NeuroCure Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; Institute of Cognitive Neurobiology, Humboldt University, 10117 Berlin, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany; pkrawitz@uni-bonn.de.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2021 Jan 12; Vol. 118 (2).