المؤلفون: Cabasson, Sébastien, Van-Gils, Julien, Villéga, Frédéric, Abi-Warde, Marie-Thérèse, Barcia, Giulia, Lazaro, Leila, Cancés, Claude, Chelly, Jamel, Karsenty, Caroline, Rivera, Serge, de Saint-Martin, Anne, Trimouille, Aurélien, Villard, Laurent, Pédespan, Jean-Michel

المصدر: In European Journal of Paediatric Neurology September 2020 28:214-220

المؤلفون: Iannuzzi, Stéphanie, Albaret, Jean-Michel, Chignac, Céline, Faure-Marie, Nathalie, Barry, Isabelle, Karsenty, Caroline, Chaix, Yves

المصدر: In Brain and Development February 2016 38(2):181-187

المؤلفون: Mucca, Marion Aubert, Patat, Olivier, Whalen, Sandra, Arnaud, Lionel, Barcia, Giulia, Buratti, Julien, Cogné, Benjamin, Doummar, Diane, Karsenty, Caroline, Kenis, Sandra, Leguern, Eric, Lesca, Gaetan, Nava, Caroline, Nizon, Mathilde, Piton, Amelie, Valence, Stéphanie, Villard, Laurent, Weckhuysen, Sarah, Keren, Boris, Mignot, Cyril

المصدر: Journal of Medical Genetics; May2022, Vol. 59 Issue 5, p505-510, 6p

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المؤلفون: Bayat, Allan, Knaus, Alexej, Pendziwiat, Manuela, Afenjar, Alexandra, Barakat, Tahsin Stefan, Bosch, Friedrich, Callewaert, Bert, Calvas, Patrick, Ceulemans, Berten, Chassaing, Nicolas, Depienne, Christel, Endziniene, Milda, Ferreira, Carlos R, Moura de Souza, Carolina Fischinger, Freihuber, Cécile, Ganesan, Shiva, Gataullina, Svetlana, Guerrini, Renzo, Guerrot, Anne-Marie, Hansen, Lars, Jezela-Stanek, Aleksandra, Karsenty, Caroline, Kievit, Anneke, Kooy, Frank R, Korff, Christian, Kragh Hansen, Johanne, Larsen, Martin, Layet, Valérie, Lesca, Gaetan, McBride, Kim L, Meuwissen, Marije, Mignot, Cyril, Montomoli, Martino, Moore, Hannah, Naudion, Sophie, Nava, Caroline, Nougues, Marie-Christine, Parrini, Elena, Pastore, Matthew, Schelhaas, Jurgen H, Skinner, Steven, Szczałuba, Krzysztoł, Thomas, Ashley, Thomassen, Mads, Tranebjaerg, Lisbeth, van Slegtenhorst, Marjon, Wolfe, Lynne A, Lal, Dennis, Gardella, Elena, Bomme Ousager, Lilian, Brünger, Tobias, Helbig, Ingo, Krawitz, Peter, Møller, Rikke S

المصدر: Epilepsia, Vol. 61, No 6 (2020) pp. 1142-1155

مصطلحات موضوعية: Adult, Male, ddc:618, Hernia, Diaphragmatic/diagnostic imaging/genetics/physiopathology, Electroencephalography/methods, Infant, Newborn, Facies, Limb Deformities, Congenital/diagnostic imaging/genetics/physiopathology, Magnetic Resonance Imaging/methods, Cohort Studies, Genetic Variation/genetics, Humans, Amino Acid Sequence, Membrane Proteins/genetics, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1400::8c138d54f17ebbfe81ec8e0b7a5c2fc1
https://archive-ouverte.unige.ch/unige:157600

المؤلفون: Aubert Mucca, Marion, Patat, Olivier, Whalen, Sandra, Arnaud, Lionel, Barcia, Giulia, Buratti, Julien, Cogné, Benjamin, Doummar, Diane, Karsenty, Caroline, Kenis, Sandra, Leguern, Eric, Lesca, Gaetan, Nava, Caroline, Nizon, Mathilde, Piton, Amelie, Valence, Stéphanie, Villard, Laurent, Weckhuysen, Sarah, Keren, Boris, Mignot, Cyril

المصدر: Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 5 p505-510, 6p

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المؤلفون: 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., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-University Bonn, Bonn, Germany., Pendziwiat M; Department of Neuropediatrics, University Medical Center Schleswig-Holstein Christian Albrechts University, Kiel, Germany., Afenjar A; CRMR Congenital Malformations and Diseases of the Cerebellum and Rare Causes of Intellectual Disabilities, Department of Genetics, Sorbonne University, AP-HP, Trousseau Hospital, Paris, France., Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Bosch F; Children's Hospital, Fürth, Germany., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Calvas P; UMR1056 INSERM-Université de Toulouse, Department of Genetics, University Hospital of Toulouse, Toulouse, France., Ceulemans B; Department of Pediatric Neurology, University Hospital and University of Antwerp, Antwerp, Belgium., Chassaing N; UMR1056 INSERM-Université de Toulouse, Department of Genetics, University Hospital of Toulouse, Toulouse, France., Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; UMR S1127, Inserm U1127, CNRS UMR 7225, Institute of brain and spinal cord, Sorbonne University, Paris, France., Endziniene M; Neurology Department, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania., Ferreira CR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Moura de Souza CF; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil., Freihuber C; Department of Pediatric Neurology, AP-HP, GHUEP, Armand Trousseau University Hospital, Paris, France.; GRC ConCer-LD, Sorbonne University, UPMC University of Paris 06, Paris, France., Ganesan S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Gataullina S; Sleep Disorders Center, AP-HP, Antoine-Béclère Hospital, Clamart, France.; Department of Pediatrics and Neonatal Intensive Care, André Grégoire Hospital, Montreuil, France., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandy University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Hansen L; Department of Cellular and Molecular Medicine, Faculty of Health Science, Copenhagen Center for Glycomics, Copenhagen, Denmark., Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Karsenty C; Neuropediatrics Department, University Hospital of Toulouse, Toulouse, France., Kievit A; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Kooy FR; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Korff CM; Pediatric Neurology Unit, Department of the Woman, Child, and Adolescent, University Hospitals Geneva, Geneva, Switzerland., Kragh Hansen J; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Larsen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Layet V; Department of Genetics, Du Havre Hospital, Le Havre, France., Lesca G; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; Institut Neuromyogene, University Claude Bernard Lyon 1, Lyon University, Lyon, France., McBride KL; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Center for Cardiovascular Research, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, Ohio State University, Columbus, Ohio, USA., Meuwissen M; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Mignot C; APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Reference Center for Rare Causes of Intellectual Disabilities, Paris, France.; Department of Genetics, Inserm U1127, CNRS UMR 7225, Institute for brain and spinal cord, ICM, AP-HP, De la Pitié Salpêtrière Hospital, Sorbonne University, Paris, France., Montomoli M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Moore H; Greenwood Genetic Center, Greenwood, South Carolina, USA., Naudion S; Department of Genetics, University of Bordeaux, Bordeaux, France., Nava C; Department of Genetics, Inserm U1127, CNRS UMR 7225, Institute for brain and spinal cord, ICM, AP-HP, De la Pitié Salpêtrière Hospital, Sorbonne University, Paris, France., Nougues MC; Department of Neuropaediatrics, Armand Trousseau Hospital, APHP, Paris, France., Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Pastore M; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, Ohio State University, Columbus, Ohio, USA., Schelhaas JH; Department of Epilepsy, Zwolle, the Netherlands., Skinner S; Greenwood Genetic Center, Greenwood, South Carolina, USA., Szczałuba K; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Thomas A; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA., Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Tranebjaerg L; Department of Clinical Genetics, Rigshospitalet/Kennedy Center, Glostrup, Denmark.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Wolfe LA; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA.; Section of Human Biochemical Genetics, National Human Genome Research Institute, Bethesda, Maryland, USA., Lal D; Cologne Center for Genomics, University Hospital Cologne, University of Cologne, Cologne, Germany.; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, Cleveland, Ohio, USA., Gardella E; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Clinical Neurophysiology, Danish Epilepsy Center, Dianalund, Denmark., Bomme Ousager L; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Brünger T; Cologne Center for Genomics, University Hospital Cologne, University of Cologne, Cologne, Germany., Helbig I; Department of Neuropediatrics, University Medical Center Schleswig-Holstein Christian Albrechts University, Kiel, Germany.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-University Bonn, Bonn, Germany., 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.

المصدر: Epilepsia [Epilepsia] 2020 Jun; Vol. 61 (6), pp. 1142-1155. Date of Electronic Publication: 2020 May 26.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation/*genetics , Hernia, Diaphragmatic/*diagnostic imaging , Hernia, Diaphragmatic/*genetics , Limb Deformities, Congenital/*diagnostic imaging , Limb Deformities, Congenital/*genetics , Membrane Proteins/*genetics, Adult ; Amino Acid Sequence ; Child ; Cohort Studies ; Electroencephalography/methods ; Facies ; Hernia, Diaphragmatic/physiopathology ; Humans ; Infant, Newborn ; Limb Deformities, Congenital/physiopathology ; Magnetic Resonance Imaging/methods ; Male

SCR Disease Name: Fryns syndrome