Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Neuhann TM"'
Autor:
Neuhann Tm
Publikováno v:
Klinische Monatsblätter für Augenheilkunde. 232:259-265
If not due to trauma, ectopia lentis is usually caused genetically. It is a main symptom of several syndromal disorders such as Marfan syndrome or homocystinuria. Also other connective tissue disorders convey an elevated risk for ectopia lentis. Isol
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Autor:
Ruault V; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Burger P; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France., Gradels-Hauguel J; Center for Rare Psychiatric Disorders - GHU Paris Psychiatrie et Neurosciences - Paris - France APHP, GHU Sainte Anne, Paris, France., Ruiz N; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Afenjar A; Département de Génétique Paris, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, APHP, Sorbonne Université, Paris, France., Alembik Y; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Alessandri JL; CHU La Réunion, Service de génétique, Saint Denis, France., Arpin S; Genetics Department, University Hospital, UMR1253 iBrain INSERM, University of Tours, Tours, France., Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Bendová Š; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France., Charles P; APHP La Pitié Salpétrière, Paris, France., Chatron N; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon, France., Chopra M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Genetic Department, Harvard Medical School, Boston, Massachusetts, USA., Conrad S; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France., Daire VC; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Cospain A; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France., Coubes C; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Delahaye-Duriez A; Medical Genomics and Clinical Genetics Unit, AP-HP, Hôpital Jean Verdier, Bondy, France.; Genetic Department, UFR SMBH, Université Sorbonne Paris Nord, Paris, France.; Genetic Department, Inserm 1141 NeuroDiderot, Paris, France., Doco M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.; Centre Hospitalier Universitaire de Reims, Pôle de Biologie Médicale et Pathologie, Service de Génétique, Reims, France., Dufour W; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France., Durand B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Engel C; Oncobiologie Génétique Bioinformatique, PC BIO, CHU Besançon, Besançon, France., Faivre L; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Ferroul F; CHU La Réunion, Service de génétique, Saint Denis, France., Fradin M; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France.; CH Saint Brieuc, Service de Génétique, Saint Brieux, France., Frenkiel H; Xtraordinaire Association, Paris, France., Fusco C; Child Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Garde A; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Gerard B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Germanaud D; Genetic Department, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.; Département de Génétique, Centre de référence Déficiences intellectuelles de causes rares, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert-Debré, Paris, France., Goujon L; Genetic Department, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.; Département de Génétique, Centre de référence Déficiences intellectuelles de causes rares, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert-Debré, Paris, France., Gouronc A; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Ginglinger E; Génétique médicale GHRMSA, Hopital Emile Muller, Mulhouse, France., Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Havlovicová M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Heron D; APHP Trousseau, Paris, France., Isidor B; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France., Marçais NJ; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France., Keren B; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP Sorbonne Université, Paris, France., Koch-Hogrebe M; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Kuentz P; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.; Oncobiologie Génétique Bioinformatique, PC BIO, CHU Besançon, Besançon, France., Lamure V; Genetic Department, UFR SMBH, Université Sorbonne Paris Nord, Paris, France., Lebre AS; Centre Hospitalier Universitaire de Reims, Pôle de Biologie Médicale et Pathologie, Service de Génétique, Reims, France.; Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Université Paris Cité, Paris, France., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Lehman N; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon, France., Lyonnet S; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Laboratoire Embryologie et Génétique des Malformations, Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France., Martin D; Xtraordinaire Association, Paris, France., Mignot C; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP Sorbonne Université, Paris, France., Neuhann TM; Genetic Department, Medizinisch Genetisches Zentrum, Munich, Germany., Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Nizon M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France., Petit F; Genetic Department, CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France., Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France., Piton A; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Pollazzon M; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Prchalová D; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Putoux A; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France., Rio M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Rondeau S; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Rossi M; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France., Sabbagh Q; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Schmetz A; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Steffann J; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Thauvin-Robinet C; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Toutain A; Genetics Department, University Hospital, UMR1253 iBrain INSERM, University of Tours, Tours, France., Them FTM; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France., Trimarchi G; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Vincent M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France., Vlčková M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Willems M; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Yauy K; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Zelinová M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Ziegler A; Genetic Department, Service de Génétique, CHU d'Angers, Angers Cedex 9, France., Chaumette B; Center for Rare Psychiatric Disorders - GHU Paris Psychiatrie et Neurosciences - Paris - France APHP, GHU Sainte Anne, Paris, France.; Institute of Psychiatry and Neuroscience of Paris, Université Paris Cité, INSERM U1266, Paris, France.; Department of Psychiatry, McGill University, Montreal, Quebec, Canada., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Mandel JL; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.; Genetic Department, University of Strasbourg Institute for Advanced Studies (USIAS), Strasbourg, France., Geneviève D; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2363.
Autor:
Gangfuß A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany., Rating P; Department of Ophthalmology, University Duisburg-Essen, Essen, Germany., Ferreira T; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge, UK., Hentschel A; Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V. Dortmund, Germany., Marina AD; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany., Kölbel H; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany., Sickmann A; Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V. Dortmund, Germany., Abicht A; Department of Neurology, Friedrich-Baur Institute, Munich, Germany.; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany., Kraft F; Institute of Human Genetics und Genomic Medicine, RWTH-Aachen University, Aachen, Germany., Ruck T; Department of Neurology, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Böhm J; IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Inserm U1258, CNRS UMR7104, Université de Strasbourg, Illkirch, France., Schänzer A; Institute of Neuropathology, Justus Liebig University, Giessen, Germany., Schara-Schmidt U; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany., Neuhann TM; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany., Horvath R; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge, UK., Roos A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
Publikováno v:
Journal of neuromuscular diseases [J Neuromuscul Dis] 2024; Vol. 11 (2), pp. 485-491.
Autor:
Witzel MGW; MGZ Medizinisch Genetisches Zentrum, München, Germany., Gebhard C; MGZ Medizinisch Genetisches Zentrum, München, Germany., Wenzel S; Gemeinschaftspraxis für Humangenetik and Genetische Labore Hamburg, Hamburg, Germany., Kleier S; Gemeinschaftspraxis für Humangenetik and Genetische Labore Hamburg, Hamburg, Germany., Eichhorn B; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH, Dresden, Germany., Lorenz P; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH, Dresden, Germany., von der Heyden L; MVZ Genetikum GmbH, Neu-Ulm, Germany., Kuhn M; MVZ Genetikum GmbH, Neu-Ulm, Germany., Luedeke M; MVZ Genetikum GmbH, Neu-Ulm, Germany., Döcker M; Zentrum für Humangenetik, Tübingen, Germany., Jüngling J; Zentrum für Humangenetik, Tübingen, Germany., Schulte B; Zentrum für Humangenetik, Tübingen, Germany., Hörtnagel K; Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ), Martinsried, Germany., Glaubitz R; Amedes Genetics, Hanover, Germany., Knippenberger S; Amedes Genetics, Hanover, Germany., Teubert A; Amedes Genetics, Hanover, Germany., Abicht A; MGZ Medizinisch Genetisches Zentrum, München, Germany., Neuhann TM; MGZ Medizinisch Genetisches Zentrum, München, Germany.
Publikováno v:
Frontiers in neurology [Front Neurol] 2023 Dec 06; Vol. 14, pp. 1276238. Date of Electronic Publication: 2023 Dec 06 (Print Publication: 2023).
Autor:
Hallermayr A; MGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany.; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, 80336 Munich, Germany.; European Liquid Biopsy Society, 20246 Hamburg, Germany., Keßler T; MGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany.; European Liquid Biopsy Society, 20246 Hamburg, Germany., Fujera M; MGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany., Liesfeld B; Limbus Medical Technologies GmbH, 18055 Rostock, Germany., Bernstein S; Limbus Medical Technologies GmbH, 18055 Rostock, Germany., von Ameln S; Immune-Oncological Centre Cologne (IOZK), 50674 Cologne, Germany., Schanze D; Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, 39120 Magdeburg, Germany., Steinke-Lange V; MGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany.; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, 80336 Munich, Germany.; European Liquid Biopsy Society, 20246 Hamburg, Germany., Pickl JMA; MGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany.; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, 80336 Munich, Germany., Neuhann TM; MGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany., Holinski-Feder E; MGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany.; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, 80336 Munich, Germany.; European Liquid Biopsy Society, 20246 Hamburg, Germany.
Publikováno v:
Cancers [Cancers (Basel)] 2023 Oct 17; Vol. 15 (20). Date of Electronic Publication: 2023 Oct 17.
[Human genetic diagnostics in hereditary eye diseases : What does the ophthalmologist need to know].
Autor:
Neuhann TM; MGZ - Medizinisch genetisches Zentrum, Bayerstr. 3-5, 80335, München, Deutschland. teresa.neuhann@mgz-muenchen.de., Neuhann L; MVZ Prof. Neuhann, Helene-Weber-Allee 19, 80637, München, Deutschland.
Publikováno v:
Die Ophthalmologie [Ophthalmologie] 2023 Jun; Vol. 120 (6), pp. 679-688. Date of Electronic Publication: 2023 Jun 02.
Autor:
Hallermayr A; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.; Pettenkofer School of Public Health, Munich, Germany.; Institute for Medical Information Processing, Biometry, and Epidemiology -IBE, Ludwig-Maximilians-Universität (LMU) Munich, Munich, Germany., Neuhann TM; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany., Steinke-Lange V; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.; Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany., Scharf F; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany., Laner A; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany., Ewald R; Limbus Medical Technologies GmbH, Rostock, Germany., Liesfeld B; Limbus Medical Technologies GmbH, Rostock, Germany., Holinski-Feder E; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.; Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany., Pickl JMA; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.; Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany.
Publikováno v:
Frontiers in oncology [Front Oncol] 2022 Dec 27; Vol. 12, pp. 1014592. Date of Electronic Publication: 2022 Dec 27 (Print Publication: 2022).
Autor:
Neuhann TM; MGZ - Medizinisch Genetisches Zentrum, Bayerstr. 3 - 5, 80335, Munich, Germany. neuhann@mgz-muenchen.de., Haub K; MGZ - Medizinisch Genetisches Zentrum, Bayerstr. 3 - 5, 80335, Munich, Germany., Steinke-Lange V; MGZ - Medizinisch Genetisches Zentrum, Bayerstr. 3 - 5, 80335, Munich, Germany.; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Kinikum Der Universität München, Munich, Germany., Morak M; MGZ - Medizinisch Genetisches Zentrum, Bayerstr. 3 - 5, 80335, Munich, Germany.; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Kinikum Der Universität München, Munich, Germany., Laner A; MGZ - Medizinisch Genetisches Zentrum, Bayerstr. 3 - 5, 80335, Munich, Germany., Locher M; MGZ - Medizinisch Genetisches Zentrum, Bayerstr. 3 - 5, 80335, Munich, Germany., Holinski-Feder E; MGZ - Medizinisch Genetisches Zentrum, Bayerstr. 3 - 5, 80335, Munich, Germany.; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Kinikum Der Universität München, Munich, Germany.
Publikováno v:
Familial cancer [Fam Cancer] 2022 Oct; Vol. 21 (4), pp. 463-472. Date of Electronic Publication: 2022 May 16.
Autor:
Lausmann H; Children's Hospital St. Marien gGmbH, Landshut, Germany., Zacharias M; Center of Functional Protein Assemblies, Technical University of Munich, Garching, Germany., Neuhann TM; Medical Genetics Center, Munich, Germany., Locher MK; Medical Genetics Center, Munich, Germany., Schettler KF; Children's Hospital St. Marien gGmbH, Landshut, Germany.
Publikováno v:
Frontiers in genetics [Front Genet] 2022 Jul 13; Vol. 13, pp. 889829. Date of Electronic Publication: 2022 Jul 13 (Print Publication: 2022).
Autor:
Fasham J; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Lin S; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Ghosh P; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù (Bambino Gesù Pediatric Hospital), IRCCS, Rome, Italy., Farrow EG; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Kussman J; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Zhou D; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Hemming R; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Zahka K; Pediatric Cardiology, Cleveland Clinic, Cleveland, OH., Chioza BA; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Rawlins LE; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Wenger OK; New Leaf Center, Clinic for Special Children, Mount Eaton, OH., Gunning AC; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù (Bambino Gesù Pediatric Hospital), IRCCS, Rome, Italy., Onesimo R; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli (Gemelli University Hospital), IRCCS, Rome, Italy., Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli (Gemelli University Hospital), IRCCS, Rome, Italy., Barker E; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Osawa N; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Rodriguez MC; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Neuhann TM; MGZ Medical Genetics Centre, Munich, Germany., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Keena B; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Capasso J; Golisano Children's Hospital and Flaum Eye Institute, University of Rochester Medical Center, Rochester, NY., Levin AV; Golisano Children's Hospital and Flaum Eye Institute, University of Rochester Medical Center, Rochester, NY., Bhoj E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Li D; Golisano Children's Hospital and Flaum Eye Institute, University of Rochester Medical Center, Rochester, NY., Hakonarson H; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Wentzensen IM; GeneDx, Gaithersburg, MD., Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom., Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom., Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX., Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù (Bambino Gesù Pediatric Hospital), IRCCS, Rome, Italy. Electronic address: marco.tartaglia@opbg.net., Triggs-Raine B; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada. Electronic address: barbara.triggs-raine@umanitoba.ca., Crosby AH; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom. Electronic address: a.h.crosby@exeter.ac.uk., Baple EL; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom. Electronic address: e.baple@exeter.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Mar; Vol. 24 (3), pp. 631-644. Date of Electronic Publication: 2021 Nov 30.