Zobrazeno 1 - 10 of 80 pro vyhledávání: '"Radio, Fc"'
5
Akademický článek
Brain malformations and seizures by impaired chaperonin function of TRiC.
Autor: Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Rodriguez-Aliaga P; Department of Biology, Stanford University, Stanford, CA 94305, USA., Yuan W; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Franken L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Zajt K; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Hasan D; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany., Lee TT; Department of Biology, Stanford University, Stanford, CA 94305, USA., Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy., Hentschel A; Leibniz- Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund 44139, Germany., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary T2N 1N4, Canada., Zheng B; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing 210008, China., Julia Suh DS; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Lausberg E; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Krause J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Zhang X; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Trapane P; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA., Carroll R; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA., McClatchey M; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK., Fry AE; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK., Wang L; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Giesselmann S; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Hoang H; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Baldridge D; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Silverman GA; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy., Bertini E; Neuromuscular Disorders, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy., Blood KA; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 2A1, Canada., de Sainte Agathe JM; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.; Laboratoire de Médecine Génomique Sorbonne Université, LBM SeqOIA, Paris 75014, France., Charles P; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France., Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia., Čuturilo G; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia, and University Children's Hospital, 11000 Belgrade, Serbia., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia., Diderich K; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, Netherlands., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands., van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands., Herriges J; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA., Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA., Maier A; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany., Wolking S; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany., Weber Y; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada., Meyer S; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada., Aleman A; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada., Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore 560030, India., Nicolas G; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France., Goldenberg A; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France., Guyant L; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France., Pope K; University of South Florida, College of Public Health, Tampa, FL 33612, USA.; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA., Hehmeyer KN; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Quade A; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany., Smol T; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France., Caumes R; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France., Duerinckx S; Department of Pediatric Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium., Depondt C; Department of Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium., Van Paesschen W; Laboratory for Epilepsy Research, KU Leuven, Leuven 3000, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven 3000, Belgium., Rieubland C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland., Poloni C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland., Guipponi M; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1205, Switzerland., Arcioni S; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Division of Medical Genetics, Central Institute of Hospitals, Valais Hospital, Sion 1951, Switzerland., Meuwissen M; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium., Jansen AC; Department of Pediatrics, Division of Child Neurology, Antwerp University Hospital, University of Antwerp, Edegem 2650, Belgium., Rosenblum J; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany., Gerstner L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany., Magg J; Department of Neuropediatrics, Developmental Neurology, Social Pediatrics, University Children's Hospital, University of Tübingen, Tübingen 72076, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany., Schulz JB; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany., Wagner N; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany., Wiesmann M; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany., Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Roos A; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department for Pediatric Neurology, University Medicine Essen, Duisburg-Essen University, 45147 Essen, Germany.; Institute of Neurology, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany., Häusler M; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany., Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy., Bremer J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Pak SC; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Frydman J; Department of Biology, Stanford University, Stanford, CA 94305, USA., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.
Publikováno v: Science (New York, N.Y.) [Science] 2024 Nov; Vol. 386 (6721), pp. 516-525. Date of Electronic Publication: 2024 Oct 31.
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6
Akademický článek
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
Autor: Carpentieri G; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Cecchetti S; Confocal Microscopy Unit, Core Facilities, Istituto Superiore di Sanità, 00161 Rome, Italy., Bocchinfuso G; Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy., Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome 00168, Italy., Onesimo R; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome 00168, Italy., Calligari P; Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy., Pietrantoni A; Electron Microscopy Unit, Core Facilities, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Ferilli M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Calderan C; Department of Women and Children's Health, University of Padua, Fondazione Istituto di Ricerca Pediatrica Città della Speranza, 35127 Padua, Italy., Cappuccio G; Department of Translational Medicine, 'Federico II' University, 80131 Naples, Italy., Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Messina E; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Caputo V; Department of Experimental Medicine, Sapienza University of Rome, 00185 Rome, Italy., Hüffmeier U; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Mignot C; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hopitaux de Paris, Sorbonne University, Paris, France., Auvin S; Service de Neurologie Pediatrique, Hopital Universitaire Robert Debré, Université Paris Cité, 75935 Paris, France., Capri Y; Department of Genetics, Robert-Debré University Hospital, Assistance Publique-Hopitaux de Paris, 75935 Paris, France., Lourenco CM; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto 14096-160, São Paulo, Brazil., Russell BE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Neustad A; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Brunetti Pierri N; Department of Translational Medicine, 'Federico II' University, 80131 Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Scuola Superiore Meridionale, Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., Keren B; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hopitaux de Paris, Sorbonne University, Paris, France., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Heidlebaugh A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Smith C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Thiel CT; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, 91054 Erlangen, Germany., Salviati L; Department of Women and Children's Health, University of Padua, Fondazione Istituto di Ricerca Pediatrica Città della Speranza, 35127 Padua, Italy., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome 00168, Italy; Facoltà di Medicina e Chirurgia, Università Cattolica del S. Cuore, 00168 Rome, Italy., Campeau PM; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada., Stella L; Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net., Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy. Electronic address: elisabetta.flex@iss.it.
Publikováno v: HGG advances [HGG Adv] 2024 Oct 10; Vol. 5 (4), pp. 100349. Date of Electronic Publication: 2024 Aug 29.
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7
Akademický článek
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Autor: Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Ebstein F; Institute of Medical Biochemistry and Molecular Biology, University Medicine Greifswald, Greifswald, Germany.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France., Hsieh TC; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Motta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Herkert JC; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO, USA., Rapp M; Department of Pediatrics-Clinical Genetics and Metabolism, Children's Hospital Colorado, Aurora, CO, USA., Alders M; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam, The Netherlands., Maas S; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam, The Netherlands., Gerard B; Unité de Biologie et de Génétique Moléculaire, Center Hospitalier Universitaire de Strasbourg, Strasbourg, France., Smol T; Univ Lille, CHU Lille, RADEME Team, Institut de Génétique Médicale, Lille, France., Vincent-Delorme C; Department of Clinical Genetics, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Cogné B; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France., Isidor B; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France., Vincent M; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France., Bachmann-Gagescu R; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Department of Molecular Life Sciences, University of Zurich, Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Ferrero GB; Department of Clinical and Biological Sciences, San Luigi Gonzaga University Hospital, University of Torino, Turin, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Husson T; Department of Research, Center Hospitalier du Rouvray, Rouen, France.; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Guerrot AM; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Bacino C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Macmurdo C; Division of Medical Genetics, Department of Internal Medicine, Baylor Scott and White Medical Center, Temple, TX, USA., Thompson SS; Division of Medical Genetics, Department of Internal Medicine, Baylor Scott and White Medical Center, Temple, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA., Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD CHU, Dijon, France.; INSERM UMR1231, équipe GAD, Université de Bourgogne-Franche Comté, Dijon, France., Mau-Them FT; INSERM UMR1231, équipe GAD, Université de Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Deb W; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France., Vignard V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France., Agrawal PB; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston, MA, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA., Madden JA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston, MA, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA., Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany., Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany., Necpál J; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.; Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia., Jech R; Department of Neurology, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum Muenchen, Neuherberg, Germany.; Neurogenetics, Technische Universitaet Muenchen, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar der TUM, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Koprušáková MT; Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, Martin, Slovakia., Konstantopoulou V; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Younce JR; Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Shinawi M; Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, St. Louis, MO, USA.; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA., Mighton C; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada.; Genomics Health Services and Policy Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Canada., Fung C; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Sinai Health System, Toronto, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Canada., Morel CF; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Sinai Health System, Toronto, Canada.; Department of Medicine, University of Toronto, Toronto, Canada., Lerner-Ellis J; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada., DiTroia S; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Barth M; Department of Biochemistry and Genetics, University Hospital of Angers, Angers, France.; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, Angers, France., Bonneau D; Department of Biochemistry and Genetics, University Hospital of Angers, Angers, France., Krapels I; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands., van der Schoot V; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU-University of Munich, Munich, Germany., Bußmann C; Department of Neuropediatrics, ATOS Klinik Heidelberg, Heidelberg, Germany., Mignot C; Département de Génétique, AP-HP-Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Dipartimento di Scienze Della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy., Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria., Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria., Feichtinger RG; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria., Courtin T; Center for Molecular and Chromosomal Genetics, AP-HP-Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France., Ravelli C; Department of Pediatric Neurology and Neurogenetic Referral Center, AP-HP-Sorbonne Université, Armand Trousseau Hospital, Paris, France., Keren B; Département de Génétique, AP-HP-Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Ziegler A; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, Angers, France.; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS, Angers, France., Hasadsri L; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Grand K; Department of Pediatrics, Guerin Children's at Cedars-Sinai Medical Center, Los Angeles, CA, USA., Sanchez-Lara PA; Department of Pediatrics, Guerin Children's at Cedars-Sinai Medical Center, Los Angeles, CA, USA., Krüger E; Institute of Medical Biochemistry and Molecular Biology, University Medicine Greifswald, Greifswald, Germany., Bézieau S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France., Klinkhammer H; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.; Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany., Krawitz PM; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Küry S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France., Wang T; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.; Neuroscience Research Institute, Peking University, Beijing, China.; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.; Autism Research Center, Peking University Health Science Center, Beijing, China.
Publikováno v: Annals of neurology [Ann Neurol] 2024 Sep 20. Date of Electronic Publication: 2024 Sep 20.
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8
Akademický článek
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.
Autor: Martino S; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy., D'Addabbo P; Department of Biosciences, Biotechnologies & Environment, University of Bari 'Aldo Moro', Via Edoardo Orabona 4, 70125 Bari, Italy., Turchiano A; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy., Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy., Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy., Cordeddu V; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy., Stella A; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy., Laforgia N; Section of Neonatology and Neonatal Intensive Care Unit, Department of Interdisciplinary Medicine, University of Bari 'Aldo Moro', 70121 Bari, Italy., Capodiferro D; Section of Neonatology and Neonatal Intensive Care Unit, Department of Interdisciplinary Medicine, University of Bari 'Aldo Moro', 70121 Bari, Italy., Simonetti S; Clinical Pathology and Neonatal Screening, Hospital 'Giovanni XXIII', University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy., Bagnulo R; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy., Palumbo O; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy., Marzano F; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, Consiglio Nazionale delle Ricerche, Via Amendola 122/O, 70126 Bari, Italy., Tabaku O; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy., Garganese A; Medical Genetic Unit, University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy., Stasi M; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy., Pesole G; Department of Biosciences, Biotechnologies & Environment, University of Bari 'Aldo Moro', Via Edoardo Orabona 4, 70125 Bari, Italy.; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, Consiglio Nazionale delle Ricerche, Via Amendola 122/O, 70126 Bari, Italy., Resta N; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Sep 05; Vol. 25 (17). Date of Electronic Publication: 2024 Sep 05.
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9
Akademický článek
Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.
Autor: Nurchis MC; School of Economics, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168, Rome, Italy. nurchismario@gmail.com.; Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Rome, Italy. nurchismario@gmail.com., Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, 00146, Rome, Italy., Salmasi L; Department of Economics and Finance, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Heidar Alizadeh A; Department of Health Sciences and Public Health, Section of Hygiene, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Raspolini GM; Department of Health Sciences and Public Health, Section of Hygiene, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Altamura G; Department of Health Sciences and Public Health, Section of Hygiene, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, 00146, Rome, Italy., Dallapiccola B; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, 00146, Rome, Italy., Damiani G; Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Rome, Italy.; Department of Health Sciences and Public Health, Section of Hygiene, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.
Publikováno v: The European journal of health economics : HEPAC : health economics in prevention and care [Eur J Health Econ] 2024 Aug; Vol. 25 (6), pp. 999-1011. Date of Electronic Publication: 2023 Nov 17.
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10
Akademický článek
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Autor: Kalm T; Institute for Cellular and Integrative Physiology, Center for Experimental Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Schob C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Völler H; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Klabunde-Cherwon A; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Ries M; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Syrbe S; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Beccaria F; Epilepsy Center, Department of Child Neuropsychiatry, Territorial Social-Health Agency, 46100 Mantova, Italy., Madia F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Scala M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy., Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy., Hofstede F; Department of General Pediatrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands., Simon MEH; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., van Jaarsveld RH; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., Oegema R; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., van Gassen KLI; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., Holwerda SJB; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands., Álvarez S; Genomics and Medicine, NIMGenetics, 28108 Madrid, Spain., Fernández-Jaén A; Pediatric Neurology Department, Quironsalud University Hospital Madrid, School of Medicine, European University of Madrid, 28224 Madrid, Spain., Porta J; Genomics, Genologica Medica, 29016 Málaga, Spain., Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, QC H4A 3J1 Montreal, Canada; Department of Human Genetics, McGill University, QC H4A 3J1 Montreal, Canada., Mancardi MM; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy; Pediatric Neurology and Neuromuscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-744, Republic of Korea; Department of Genomic Medicine, Rare Disease Center, Seoul National University Hospital, Seoul 03080, Republic of Korea., Jang S; Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-744, Republic of Korea., Kim SY; Department of Genomic Medicine, Rare Disease Center, Seoul National University Hospital, Seoul 03080, Republic of Korea., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto ON M5G 1E2 Toronto, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, M5G 1X8 Toronto, Canada., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, M5G 1X8 Toronto, Canada; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, AB T6G 2H7 Edmonton, Canada., Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Kampmeier A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Surowy H; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Bertini ES; Neuromuscular Disorders, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Pizzi S; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Gauthier L; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, University Hospital of Montpellier, 34295 Montpellier, France., Genevieve D; Montpellier University, Inserm U1183, Montpellier, France; Department of Clinical Genetics, University Hospital of Montpellier, 34295 Montpellier, France., Tharreau M; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, University Hospital of Montpellier, 34295 Montpellier, France., Azoulay N; The Genetic Institute of Maccabi Health Services, Rehovot 7610000, Israel; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva 49100, Israel., Zaks-Hoffer G; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva 49100, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel., Gilad NK; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikvah 4920235, Israel., Orenstein N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikvah 4920235, Israel., Bernard G; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, QC H4A 3J1 Montreal, Canada; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada., Thiffault I; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Bähring R; Institute for Cellular and Integrative Physiology, Center for Experimental Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: r.baehring@uke.uni-hamburg.de., Kindler S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: kindler@uke.de.
Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1206-1221. Date of Electronic Publication: 2024 May 20.
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