Výsledky vyhledávání - "Maxton, Caroline"

Autor: Loong L; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Tardivo A; National Center of Medical Genetics, National Administration of Health Laboratories and Institutes, National Ministry of Health, Buenos Aires, Argentina., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-University Bonn, Bonn, Germany., Hashim M; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom., Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom., Alt K; Genetikum, Center for Human Genetics, Neu-Ulm, Germany., Böhrer-Rabel H; Genetikum, Center for Human Genetics, Neu-Ulm, Germany., Caro-Llopis A; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Cole T; West Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS FT and Birmingham Health Partners, Birmingham, United Kingdom., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany., Edery P; Department of Medical Genetics, Lyon University Hospital, Lyon, France., Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom., Kluger G; Genetikum, Center for Human Genetics, Neu-Ulm, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-University Bonn, Bonn, Germany., Kuhn M; Genetikum, Center for Human Genetics, Neu-Ulm, Germany., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Lesca G; Department of Medical Genetics, Lyon University Hospital, Lyon, France., Lynch SA; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland., Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Maxton C; Praxis für Neuropädiatrie, Hamburg, Germany., Mierzewska H; Clinic of Pediatric Neurology, Institute of Mother and Child, Warsaw, Poland., Monfort S; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Nicolai J; Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands., Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Pal DK; Department of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom., Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Quarrell OW; Department of Clinical Genetics, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom., Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Sabir A; West Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS FT and Birmingham Health Partners, Birmingham, United Kingdom., Śmigiel R; Division Pediatric Propedeutics and Rare Disorders, Department of Pediatrics, Wroclaw Medical University, Wrocław, Poland., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Stumpel C; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Szczepanik E; Clinic of Pediatric Neurology, Institute of Mother and Child, Warsaw, Poland., Tzschach A; Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Wolfe L; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Taylor JC; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom., Murakami Y; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan; World Premier International Immunology Frontier Research Center, Osaka University, Osaka, Japan., Kinoshita T; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan; World Premier International Immunology Frontier Research Center, Osaka University, Osaka, Japan., Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom. Electronic address: Usha.Kini@ouh.nhs.uk.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 37-48. Date of Electronic Publication: 2022 Nov 02.

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Akademický článek

PIGN encephalopathy: Characterizing the epileptology.

Autor: Bayat A; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., de Valles-Ibáñez G; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Pendziwiat M; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrecht University, Kiel, Germany.; Institute of Clinical Molecular Biology, Christian Albrecht University of Kiel, Kiel, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rhenish Friedrich Wilhelm University of Bonn, Bonn, Germany., Alt K; Center for Human Genetics, Neu-Ulm, Germany., Biamino E; Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy., Bley A; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Center for Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Calvert S; Department of Neurosciences, Queensland Children's Hospital, South Brisbane, Queensland, Australia., Carney P; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia., Caro-Llopis A; Genomics Unit, University and Polytechnic Hospital La Fe, Valencia, Spain., Ceulemans B; Department of Pediatric Neurology, Antwerp University Hospital, Edegem, Belgium., Cousin J; Section of Human Biochemical Genetics, National Human Genome Research Institute, Bethesda, Maryland, USA., Davis S; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., des Portes V; Department of Neuropediatrics, Lyon University Hospital, Lyon, France., Edery P; Department of Medical Genetics, University Hospital of Lyon, Lyon, France., England E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts, USA., Ferreira C; National Human Genome Research Institute, Bethesda, Maryland, USA., Freeman J; Royal Children's Hospital, Parkville, Victoria, Australia.; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Gener B; Department of Genetics, Cruces University Hospital, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain., Gorce M; Angers University Hospital, Angers, France., Heron D; Department of Genetics, Intellectual Disability and Autism Clinical Research Group, Pierre and Marie Curie University, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France., Hildebrand MS; Royal Children's Hospital, Florey institute and Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Epilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia., Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Jouk PS; Inserm U1209, Grenoble Alpes University Hospital Center, University of Grenoble Alpes, Grenoble, France., Keren B; Department of Genetics, Intellectual Disability and Autism Clinical Research Group, Pierre and Marie Curie University, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France., Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kluger G; Center for Human Genetics, Neu-Ulm, Germany., Kuhn M; Center for Human Genetics, Neu-Ulm, Germany., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Li H; Emory University School of Medicine, Atlanta, Georgia, USA., Martinez F; Genomics Unit, University and Polytechnic Hospital La Fe, Valencia, Spain., Maxton C; Clinic for Pediatric Neurology, Hamburg, Germany., Mefford HC; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St, Jude Children's Research Hospital, Memphis, Tennessee, USA., Merla G; Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy., Mierzewska H; Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland., Muir A; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St, Jude Children's Research Hospital, Memphis, Tennessee, USA., Monfort S; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands., Nicolai J; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands., Norman J; INTEGRIS Pediatric Neurology, Oklahoma City, Oklahoma, USA., O'Grady G; Starship Children's Hospital, Auckland, New Zealand., Oleksy B; Center for Child and Adolescent Medicine, Pediatric Neurology, Heidelberg University Hospital, Heidelberg, Germany., Orellana C; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands., Orec LE; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Peinhardt C; Emory University School of Medicine, Atlanta, Georgia, USA., Pronicka E; Clinical Genetics, La Paz University Hospital, Madrid, Spain., Rosello M; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands., Santos-Simarro F; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schwaibold EMC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Stegmann APA; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands., Stumpel CT; Department of Genetics, University of Bourgogne-Franche Comté, Dijon, France., Szczepanik E; Center for Child and Adolescent Medicine, Pediatric Neurology, Heidelberg University Hospital, Heidelberg, Germany., Terczyńska I; Institute of Clinical Genetics, Dresden University of Technology, Dresden, Germany., Thevenon J; Neurology Department, University Hospital Antwerp, Antwerp, Belgium., Tzschach A; Applied and Translational Genomics Group, Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium., Van Bogaert P; Angers University Hospital, Angers, France., Vittorini R; Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy., Walsh S; Applied and Translational Genomics Group, Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium., Weckhuysen S; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Weissman B; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Wolfe L; National Human Genome Research Institute, Bethesda, Maryland, USA., Reymond A; Giannina Gaslini Institute, Genoa, Italy., De Nittis P; Giannina Gaslini Institute, Genoa, Italy., Poduri A; Departments of Medicine and Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Olson H; Departments of Medicine and Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Striano P; Giannina Gaslini Institute, Genoa, Italy., Lesca G; Department of Medical Genetics, University Hospital of Lyon, Lyon, France., Scheffer IE; Royal Children's Hospital, Florey institute and Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Departments of Medicine and Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Møller RS; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.

Publikováno v: Epilepsia [Epilepsia] 2022 Apr; Vol. 63 (4), pp. 974-991. Date of Electronic Publication: 2022 Feb 18.

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