Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Ranguin K"'
Autor:
Ben-Mahmoud A; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Kishikawa S; Gene Engineering Division, RIKEN BioResource Research Center, Tsukuba, Japan., Gupta V; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Leach NT; Integrated Genetics, Laboratory Corporation of America Holdings, 3400 Computer Drive, Westborough, MA, 01581, USA., Shen Y; Division of Genetics and Genomics at Boston Children's Hospital, Harvard Medical School, Boston, MA, 02114, USA., Moldovan O; Medical Genetics Service, Pediatric Department, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal., Goel H; Hunter Genetics, Waratah, NSW, 2298, Australia.; University of Newcastle, Callaghan, NSW, 2308, Australia., Hopper B; Forster Genetics-Hunter New England Local Health District, Forster, NSW, 2428, Australia., Ranguin K; Department of Genetics, Reference Center for Rare Diseases of Developmental anomalies and polymalformative syndrome, CHU de Caen Normandie, Caen, France., Gruchy N; Department of Genetics, Reference Center for Rare Diseases of Developmental anomalies and polymalformative syndrome, CHU de Caen Normandie, Caen, France., Maas SM; Department of Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, the Netherlands., Lacassie Y; Division of Genetics, Department of Pediatrics, Louisiana State University, New Orleans, LA, 70118, USA., Kim SH; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK., Kim WY; Department of Biological Sciences, Kent State University, Kent, OH, 44242, USA., Quade BJ; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA., Morton CC; Departments of Obstetrics and Gynecology and of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Manchester Centre for Audiology and Deafness, School of Health Sciences, University of Manchester, Manchester, UK., Kim CH; Department of Biology, Chungnam National University, Daejeon, 34134, Korea., Layman LC; Section of Reproductive Endocrinology, Infertility and Genetics, Department of Obstetrics and Gynecology, Augusta University, Augusta, GA, USA.; Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, GA, USA., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar. hkim@hbku.edu.qa.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. hkim@hbku.edu.qa.
Publikováno v:
Scientific reports [Sci Rep] 2023 Aug 10; Vol. 13 (1), pp. 12984. Date of Electronic Publication: 2023 Aug 10.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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K zobrazení výsledku je třeba se přihlásit.
Autor:
Ben-Mahmoud A; Hamad Bin Khalifa University., Kishikawa S; RIKEN BioResource Research Center., Gupta V; Hamad Bin Khalifa University., Leach NT; Laboratory Corporation of America Holdings., Shen Y; Harvard Medical School., Moldovan O; Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte., Goel H; University of Newcastle., Hopper B; Forster Genetics-Hunter New England Local Health District., Ranguin K; CHU de Caen Normandie., Gruchy N; CHU de Caen Normandie., Maas SM; University of Amsterdam., Lacassie Y; Louisiana State University., Kim SH; University of London., Kim WY; Kent State University., Quade BJ; Harvard Medical School., Morton CC; Harvard Medical School., Kim CH; Chungnam National University., Layman LC; Augusta University., Kim HG; Hamad Bin Khalifa University.
Publikováno v:
Research square [Res Sq] 2023 Mar 27. Date of Electronic Publication: 2023 Mar 27.
Autor:
Sheppard SE; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA., Bryant L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wickramasekara RN; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Molecular Diagnostic Laboratory, Boys Town National Research Hospital, Omaha, NE, USA., Vaccaro C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Robertson B; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Hallgren J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Hulen J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Watson CJ; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Faundes V; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile., Duffourd Y; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Lee P; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Simon MC; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., de la Cruz X; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Spain., Padilla N; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain., Flores-Mendez M; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Smiler J; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; 10x Genomics, Pleasanton, CA, USA., Pellegrino Da Silva R; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., March M; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Diaz-Rosado A; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Peixoto de Barcelos I; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Choa ZX; Epithelial Epigenetics and Development Laboratory, A*STAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Lim CY; Epithelial Epigenetics and Development Laboratory, A*STAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France., Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France., Demurger F; Department of Clinical Genetics, Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France., Mulhern M; Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA., Akman C; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA., Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Andrews M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Baldridge D; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Constantino J; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Snoeck-Streef I; Department of Child Neurology, University Medical Center Utrecht, Utrecht, Netherlands., Chow P; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA., Hing A; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA., Graham JM Jr; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA., Au M; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA., Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon, Bourgogne, France., Shen W; University of Utah, Salt Lake City, UT, USA.; Mayo Clinic, Rochester, MN, USA., Mao R; University of Utah, Salt Lake City, UT, USA., Palumbos J; University of Utah, Salt Lake City, UT, USA., Viskochil D; University of Utah, Salt Lake City, UT, USA., Gahl W; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Tifft C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Macnamara E; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Hauser N; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Miller R; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Maffeo J; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Afenjar A; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France., Doummar D; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France., Arn P; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL, USA., Macklin-Mantia S; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, USA., Meerschaut I; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland., Brewer C; Clinical Genetics Department, Royal Devon and Exeter Hospital (Heavitree), Exeter EX1 2ED, UK., Saggar A; Clinical Genetics Department, St George's Hospital, St George's Healthcare NHS Trust, London SW17 0QT, UK., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.; Department of Pediatric Rehabilitation, University Hospital of North Norway, Norway., Kumar A; Northeast Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK., Elmslie F; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK., Deshpande C; Department of Medical Genetics, Guy's Hospital, London SE1 9RT, UK., Nizon M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France., Cogne B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.; Nantes Université, CNRS, INSERM, L'institut du thorax, F-44000 Nantes, France., van Ierland Y; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Wilke M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Koudijs S; Department of Neurology, Erasmus University Medical Center-Sophia Children's Hospital, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Chen JY; Neurology Department, Massachusetts General Hospital, Boston, MA, USA., Dredge D; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Pier D; Neurology Department, Massachusetts General Hospital, Boston, MA, USA., Wortmann S; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Amalia Children's Hospital, RadboudUMC Nijmegen, Nijmegen, Netherlands., Kamsteeg EJ; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Koch J; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Haynes D; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA., Pollack L; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA., Titheradge H; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK., Ranguin K; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France., Denommé-Pichon AS; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Weber S; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France., Pérez de la Fuente R; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Sánchez Del Pozo J; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Lezana Rosales JM; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Joset P; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland., Steindl K; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland., Rauch A; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.; University of Zurich, University Children's Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich, URPP Adaptive Brain Circuits in Development and Learning (AdaBD), Zurich, Switzerland.; University of Zurich Research Priority Program (URPP) AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich 8006, Switzerland.; University of Zurich Research Priority Program (URPP) ITINERARE: Innovative Therapies in Rare Diseases, Zurich 8006, Switzerland., Mei D; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Mari F; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Guerrini R; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Lespinasse J; UF de Génétique Chromosomique, Centre Hospitalier de Chambéry, Hôtel-dieu, France., Tran Mau-Them F; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Philippe C; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Dauriat B; Service de cytogénétique et génétique médicale, Centre Hospitalier Universitaire de Limoges, France., Raymond L; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France., Moutton S; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France., Cueto-González AM; Hospital Vall d'Hebron, Barcelona, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Mignot C; AP-HP, Sorbonne Université, Département de Génétique, Paris, France., Grotto S; AP-HP, Sorbonne Université, Département de Génétique, Paris, France., Renaldo F; AP-HP, Sorbonne Université, Département de neuropediatrie, Centre de référence neurogénétique, Hôpital Armand Trousseau, Paris, France., Drivas TG; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Hennessy L; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Raper A; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Kaiser FJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), Universitätsklinikum Essen, Essen, Germany., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Islam L; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK., Siedlik JA; Department of Exercise Science and Pre-Health Professions, Creighton University, Omaha, NE, USA., Henderson LB; GeneDx, Gaithersburg, MD, USA., Juusola J; GeneDx, Gaithersburg, MD, USA., Person R; GeneDx, Gaithersburg, MD, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA.; Department of Pediatrics, Division of Genetics Cooper Medical School of Rowan University Cooper University Health Care 3, Cooper Plaza, Camden, NJ, USA., Vitobello A; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Stessman HAF; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.
Publikováno v:
Science advances [Sci Adv] 2023 Mar 10; Vol. 9 (10), pp. eade1463. Date of Electronic Publication: 2023 Mar 10.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Taylor J; Medical School, University of Sheffield, Sheffield, UK., Spiller M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Ranguin K; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen, France., Vitobello A; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France., Philippe C; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France., Bruel AL; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France., Cappuccio G; Department of Translational Medicine, University of Naples Federico II, Naples, Italy., Brunetti-Pierri N; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1298, INM, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Isidor B; CHU de Nantes, Service de Génétique Médicale, Nantes, France., Park K; Department of Paediatrics and Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA., Balasubramanian M; Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 May; Vol. 188 (5), pp. 1497-1514. Date of Electronic Publication: 2022 Feb 09.
Autor:
Pavinato L; Department of Medical Sciences, University of Turin, Torino, Italy.; Institute of Human Genetics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Villamor-Payà M; The Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain., Sanchiz-Calvo M; The Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain., Andreoli C; Department of Environment and Health, Istituto Superiore di Sanità, Roma, Italy., Gay M; The Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain., Vilaseca M; The Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain., Arauz-Garofalo G; The Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy., Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy., Pippucci T; Medical Genetics Unity, Sant'Orsola-Malpighi University Hospital, Bologna, Italy., Prota V; Department of Environment and Health, Istituto Superiore di Sanità, Roma, Italy., Carli D; Department of Pediatrics and Public Health and Pediatric Sciences, University of Turin, Torino, Italy., Giorgio E; Department of Medical Sciences, University of Turin, Torino, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy., Antona V; Department of Sciences for Health Promotion and Mother and Child Care 'G. D'Alessandro', University of Palermo, Palermo, Italy., Giuffrè M; Department of Sciences for Health Promotion and Mother and Child Care 'G. D'Alessandro', University of Palermo, Palermo, Italy., Ranguin K; Department of Genetics, Reference center for Rare Diseases and Developmental Anomalies, Caen, France., Colson C; Department of Genetics, Reference center for Rare Diseases and Developmental Anomalies, Caen, France., De Rubeis S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York City, New York, USA., Dimartino P; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York City, New York, USA., Ferrero GB; Department of Pediatrics and Public Health and Pediatric Sciences, University of Turin, Torino, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy., Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Roma, Italy., Stracker TH; The Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain.; Radiation Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA., Brusco A; Department of Medical Sciences, University of Turin, Torino, Italy alfredo.brusco@unito.it.; Unit of Medical Genetics, 'Città della Salute e della Scienza' University Hospital, Torino, Italy.
Publikováno v:
Journal of medical genetics [J Med Genet] 2022 Feb; Vol. 59 (2), pp. 170-179. Date of Electronic Publication: 2020 Dec 15.
Autor:
Morgan A; Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. angela.morgan@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia. angela.morgan@mcri.edu.au.; Royal Children's Hospital, Melbourne, Victoria, Australia. angela.morgan@mcri.edu.au.; Victorian Clinical Genetics Service, Melbourne, Victoria, Australia. angela.morgan@mcri.edu.au.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville, Victoria, Australia. angela.morgan@mcri.edu.au., Braden R; Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville, Victoria, Australia., Wong MMK; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Colin E; Service de Génétique Médicale, Centre Hospitalier Universitaire d'Angers, Angers, France., Amor D; Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Service, Melbourne, Victoria, Australia., Liégeois F; UCL Great Ormond Street Institute of Child Health, London, UK., Srivastava S; Boston Children's, Harvard Medical Centre, Boston, MA, USA., Vogel A; Centre for Neuroscience of Speech, Department of Audiology and Speech Pathology, University of Melbourne, Melbourne, Victoria, Australia., Bizaoui V; Service de Génétique, Centre Hospitalier Universitaire Caen Normandie, Caen, France., Ranguin K; Service de Génétique, Centre Hospitalier Universitaire Caen Normandie, Caen, France., Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., van Bon BW; Radboud University Medical centre, Nijmegen, The Netherlands.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Aug; Vol. 29 (8), pp. 1216-1225. Date of Electronic Publication: 2021 Apr 27.
Autor:
Huynh MT; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 9 quai Moncousu, 44093, Nantes cedex 1, France. minhtuannia82@yahoo.it., Gérard M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Caen, Caen, France., Ranguin K; Service de Génétique Médicale, Centre Hospitalier Universitaire de Caen, Caen, France., Pichon O; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 9 quai Moncousu, 44093, Nantes cedex 1, France., Ghesh L; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 9 quai Moncousu, 44093, Nantes cedex 1, France., Alfallaj K; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 9 quai Moncousu, 44093, Nantes cedex 1, France., Joubert M; Service D'anatomie Et Cytologie Pathologiques, Centre Hospitalier Universitaire de Nantes, Nantes, France., Bézieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 9 quai Moncousu, 44093, Nantes cedex 1, France.; Université de Nantes, CNRS, INSERM, L'institut du Thorax, 44000, Nantes, France., Bénéteau C; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 9 quai Moncousu, 44093, Nantes cedex 1, France.
Publikováno v:
Neurogenetics [Neurogenetics] 2021 Jul; Vol. 22 (3), pp. 195-206. Date of Electronic Publication: 2021 Jun 16.
Autor:
Lauretta, Mariana L.1 mariana.lauretta@mcri.edu.au, Jarmolowicz, Anna1, Amor, David J.1,2,3, Best, Stephanie4,5,6,7, Morgan, Angela T.1,2,3,8
Publikováno v:
Journal of Speech, Language & Hearing Research. 2024 Supplement, Vol. 67, p3437-3451. 15p.