학술논문
'학술논문'
에서 검색결과 177건 | 목록
1~20
Academic Journal
International Journal of Women's Health, Vol 2015, Iss default, Pp 717-722 (2015)
Academic Journal
International Journal of Women's Health, Vol 2015, Iss default, Pp 485-491 (2015)
Academic Journal
Zheng Y; Technology & Therapeutic Platforms, AbbVie Inc., North Chicago, Illinois 60064, United States.; Singh A; Department of Biochemistry and Biophysics and GCE4All Research Center, Oregon State University, Corvallis, Oregon 97331, United States.; Niu Z; Technology & Therapeutic Platforms, AbbVie Inc., North Chicago, Illinois 60064, United States.; Marin V; Technology & Therapeutic Platforms, AbbVie Inc., North Chicago, Illinois 60064, United States.; Young J; Technology & Therapeutic Platforms, AbbVie Inc., North Chicago, Illinois 60064, United States.; Richardson P; Technology & Therapeutic Platforms, AbbVie Inc., North Chicago, Illinois 60064, United States.; Hemshorn ML; Department of Biochemistry and Biophysics and GCE4All Research Center, Oregon State University, Corvallis, Oregon 97331, United States.; Cooley RB; Department of Biochemistry and Biophysics and GCE4All Research Center, Oregon State University, Corvallis, Oregon 97331, United States.; Karplus PA; Department of Biochemistry and Biophysics and GCE4All Research Center, Oregon State University, Corvallis, Oregon 97331, United States.; Puvar K; Technology & Therapeutic Platforms, AbbVie Inc., North Chicago, Illinois 60064, United States.; Warder SE; Technology & Therapeutic Platforms, AbbVie Inc., North Chicago, Illinois 60064, United States.; Vasudevan A; Technology & Therapeutic Platforms, AbbVie Inc., North Chicago, Illinois 60064, United States.; Reitsma JM; Technology & Therapeutic Platforms, AbbVie Inc., North Chicago, Illinois 60064, United States.; Mehl RA; Department of Biochemistry and Biophysics and GCE4All Research Center, Oregon State University, Corvallis, Oregon 97331, United States.
Publisher: American Chemical Society Country of Publication: United States NLM ID: 7503056 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1520-5126 (Electronic) Linking ISSN: 00027863 NLM ISO Abbreviation: J Am Chem Soc Subsets: MEDLINE
Academic Journal
Nava C; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France. caroline.nava@aphp.fr.; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France. caroline.nava@aphp.fr.; Laboratoire SeqOIA, Paris, France. caroline.nava@aphp.fr.; Cogne B; Laboratoire SeqOIA, Paris, France.; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Santini A; Univ. Rouen Normandie, Normandie Univ., Inserm U1245, Rouen, France.; Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Lecoquierre F; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Chen Y; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Stenton SL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Besnard T; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Heide S; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Baer S; Service de Neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France.; Jakhar A; CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104-UMR-S 1258, Illkirch, France.; Department of Integrated Structural Biology, IGBMC, Illkirch, France.; Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Keren B; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France.; Faudet A; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Forlani S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; Faoucher M; Laboratoire SeqOIA, Paris, France.; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; GCS AURAGEN, Lyon, France.; Uguen K; Laboratoire SeqOIA, Paris, France.; Univ. Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Afenjar A; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, UF de Génétique Clinique, Hôpital Trousseau, Paris, France.; Alessandri JL; Service de Génétique, CHU de La Réunion, Saint-Pierre, France.; Andres S; Medicover München Ost MVZ Humangenetik, Munich, Germany.; Angelini C; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Aral B; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle Biologie, CHU de Dijon, Dijon, France.; Arveiler B; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.; Attie-Bitach T; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Aubert Mucca M; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Banneau G; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Barcia G; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Baulac S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; Beneteau C; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Benkerdou F; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Bernard V; GCS AURAGEN, Lyon, France.; Bézieau S; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Bonneau D; Department of Genetics, Angers University Hospital, Angers, France.; UMR CNRS 6214-INSERM 1083, Angers, France.; Bonnet-Dupeyron MN; Consultations de Génétique, Centre Hospitalier de Valence, Valence, France.; Boussion S; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Boute O; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Brischoux-Boucher E; Centre de Génétique Humaine-CHU Besançon, Université de Bourgogne-Franche-Comté, Besançon, France.; Bryen SJ; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Buratti J; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Busa T; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France.; Caliebe A; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Capri Y; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Cassinari K; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Caumes R; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Cenni C; Service de Génétique Moléculaire, Chromosomique et Clinique, CHU de Nîmes, Nîmes, France.; Chambon P; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Charles P; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Christodoulou J; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Colson C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Conrad S; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Cospain A; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; Coursimault J; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Courtin T; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Couse M; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Coutton C; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; Creveaux I; GCS AURAGEN, Lyon, France.; CHU Clermont-Ferrand Department of Medical Biochemistry and Molecular Biology, Clermont-Ferrand, France.; D'Gama AM; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Dauriat B; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Cytogénétique et Biologie de la Reproduction, CHU de Limoges, Limoges, France.; de Sainte Agathe JM; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France.; Del Gobbo G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Delahaye-Duriez A; Laboratoire SeqOIA, Paris, France.; Hôpitaux Universitaires de Paris Seine-Saint-Denis-APHP, UF de médecine génomique et génétique Clinique, Hôpital Jean Verdier, Bondy, France.; UFR Santé Médecine et Biologie Humaine, Université Sorbonne Paris Nord, Bobigny, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Delanne J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Denommé-Pichon AS; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Dieux-Coeslier A; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Do Souto Ferreira L; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Doco-Fenzy M; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; GCS AURAGEN, Lyon, France.; Service de Génétique, CHU de Reims, Reims, France.; Drukewitz S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Duboc V; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France.; Dubourg C; Laboratoire SeqOIA, Paris, France.; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; Duffourd Y; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.; Elmaleh M; Assistance Publique-Hôpitaux de Paris (AP-HP), DMU DREAM, Hôpital Robert Debré, Service de Radiologie Pédiatrique, Paris, France.; Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Fennelly S; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Fischer H; Sozialpädiatrisches Zentrum Konstanz, Konstanz, Germany.; Fradin M; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Galludec Vaillant C; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Ganne B; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Chromosomique, CHU de Montpellier, Montpellier, France.; Ghoumid J; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Goel H; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia.; Gokce-Samar Z; Department of Epilepsy, Sleep and Pediatric Neurophysiology, Hospices Civils de Lyon, Lyon, France.; University of Lyon, Lyon, France.; Goldenberg A; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Gonfreville Robert R; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Gorokhova S; GCS AURAGEN, Lyon, France.; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France.; Aix Marseille University, INSERM, Marseille Medical Genetics, U1251, Marseille, France.; Goujon L; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Granier V; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Gras M; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Greally JM; Department of Pediatrics, Division of Pediatric Genetic, Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.; Greiten B; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Gueguen P; Laboratoire SeqOIA, Paris, France.; Service de Génétique, CHU de Tours, Tours, France.; Université de Tours, INSERM, Imaging Brain and Neuropsychiatry iBraiN U1253, Tours, France.; Guerrot AM; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Guha S; Molecular Diagnostics, New York Genome Center, New York City, NY, USA.; Guimier A; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hadj Abdallah H; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Halleb Y; Service de Génétique Médicale, Centre Hospitalier du Mans, Le Mans, France.; Harbuz R; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; Harris M; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Héron B; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.; Hitz MP; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Department of Medical Genetics, Carl von Ossietzky University, Oldenburg, Germany.; Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Jadas V; Service de Pédiatrie, CHMS Chambéry, CAMSP Chambéry, Chambéry, France.; Januel L; GCS AURAGEN, Lyon, France.; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Jean-Marçais N; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Jobanputra V; Molecular Diagnostics, New York Genome Center, New York City, NY, USA.; Department of Pathology, Columbia University Irving Medical Center, New York City, NY, USA.; Jobic F; Clinical Genetics Unit, University Hospital of Amiens, Amiens, France.; Jornea L; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; Jost C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Julia S; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Essen Center for Rare Diseases (EZSE), Essen, Germany.; Kaschta D; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Kaya S; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Ketteler P; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Department of Pediatrics III, University Hospital Essen, Essen, Germany.; Khadija B; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia.; Cytogenetics, Molecular Genetics and Human Reproductive Biology Laboratory, Service of Genetics CHU Farhat Hached Sousse, Sousse, Tunisia.; Kilpert F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Lackmy M; Unité de Génétique Clinique, Centre de Compétences Maladies Rares Anomalies du Développement, CHRU de Pointe à Pitre, Guadeloupe, France.; Laffargue F; Service de Génétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France.; Lambert L; Service de Génétique Clinique, CHRU Nancy, Vandoeuvre les Nancy, France.; INSERM U1256-NGERE, Faculté de Médecine, Université de Lorraine, Vandoeuvre les Nancy, France.; Lamont R; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Laugel V; Service de Neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Laurie S; Centro Nacional de Análisis Genómico (CNAG), Universitat de Barcelona (UB), Barcelona, Spain.; Lauzon JL; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Lebreton L; GCS AURAGEN, Lyon, France.; Service de Biochimie, Hôpital Pellegrin, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Lebrun M; GCS AURAGEN, Lyon, France.; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France.; Legendre M; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Leguern E; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Lehalle D; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Lejeune E; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Lesca G; GCS AURAGEN, Lyon, France.; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PGNM), UCBL, CNRS UMR5261-INSERM, U1315, Lyon, France.; Lesieur-Sebellin M; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Levy J; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Linglart A; Department of Endocrinology and Diabetology for Children, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.; Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, Le Kremlin Bicetre, France.; Paris Saclay University, Paris, France.; Lyonnet S; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Lüthy K; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Ma AS; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia.; Specialty of Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia.; Mach C; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Mandel JL; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France.; Mansour-Hendili L; Laboratoire SeqOIA, Paris, France.; Marcadier J; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Marin V; GCS AURAGEN, Lyon, France.; Service de Biochimie, Hôpital Pellegrin, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Margot H; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.; Marquet V; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Cytogénétique et Biologie de la Reproduction, CHU de Limoges, Limoges, France.; May A; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Mayr JA; University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria.; Meridda C; Service de Génétique, CHU Caen, Caen, France.; Michaud V; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.; Michot C; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Nadeau G; Laboratoire de Cytogénétique, CH de Chambéry, Chambéry, France.; Naudion S; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Nguyen L; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Nizon M; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nowak F; Health Technologies Institute, Inserm, Paris, France.; Odent S; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Olin V; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Osei-Owusu IA; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Õunap K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Pasquier L; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Passemard S; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), DMU INOV-RDB, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris, France.; Pauly M; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Patat O; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Pensec M; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.; Perrin-Sabourin L; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Petit F; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Philippe C; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Médicale, CHR Metz-Thionville, Hôpital Mercy, Metz, France.; Planes M; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.; Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Poirsier C; UF de Génétique clinique, CHU de Reims, Reims, France.; Pouzet A; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Prince B; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Prouteau C; Department of Genetics, Angers University Hospital, Angers, France.; Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; Racine C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Rama M; GCS AURAGEN, Lyon, France.; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Ramond F; GCS AURAGEN, Lyon, France.; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France.; Ranguin K; Unité de Génétique-Centre Hospitalier Universitaire de Guadeloupe, Guadeloupe, France.; Raway M; Centre de Génétique Humaine-CHU Besançon, Université de Bourgogne-Franche-Comté, Besançon, France.; Reis A; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen, University Hospital Erlangen, Erlangen, Germany.; Renaud M; Service de Génétique Clinique, CHRU Nancy, Vandoeuvre les Nancy, France.; INSERM U1256-NGERE, Faculté de Médecine, Université de Lorraine, Vandoeuvre les Nancy, France.; Revencu N; Center for Human Genetics, Cliniques universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.; Richard AC; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Riera-Navarro L; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France.; Rius R; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Rodriguez D; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.; Reference Center for Rare Diseases and Intellectual Deficiencies of Rare Causes, Paris, France.; Rodriguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.; Rondeau S; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Roser-Unruh A; LMU Klinikum-München, Munich, Germany.; Rougeot Jung C; Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service de Neuropédiatrie, Lyon, France.; Safraou H; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Satre V; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; Saugier-Veber P; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Sauvestre C; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Schaefer E; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.; Shao W; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Schanze I; Institute of Human Genetics, Magdeburg, Germany.; Schlump JU; Department of Pediatrics, Centre for Neuromedicine, Gemeinschaftskrankenhaus Herdecke Gerhard-Kienle-Weg, Herdecke, Germany.; Department of Pediatrics, AMEOS Klinikum St. Clemens Oberhausen, Oberhausen, Germany.; Schlüter Martin A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Schluth-Bolard C; GCS AURAGEN, Lyon, France.; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; UMRS 1112, INSERM, Université de Strasbourg, Strasbourg, France.; Schuhmann S; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Schröder C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Sebastin M; Department of Pediatrics, Division of Pediatric Genetic, Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.; Sigaudy S; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France.; Spielmann M; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Spodenkiewicz M; Department of Genetics, La Réunion University Hospital, Saint-Pierre, France.; St Clair L; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia.; Steffann J; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Stoeva R; Service de Génétique Médicale, Centre Hospitalier du Mans, Le Mans, France.; Surowy H; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Tarnopolsky MA; Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada.; Todosi C; Centre de Référence des Epilepsies Rares (CRéER), CHRU Nancy, Vandoeuvre les Nancy, France.; Service de Médecine Infantile, CHRU, Vandoeuvre les Nancy, France.; Toutain A; Génétique Médicale, Centre Hospitalier Universitaire; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Tran Mau-Them F; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, Dijon, France.; Unterlauft A; Department of Neurology, University of Leipzig Medical Center, Leipzig, Germany.; Van-Gils J; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.; Vanlerberghe C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Vasileiou G; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen, University Hospital Erlangen, Erlangen, Germany.; Vera G; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Verdel A; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; Verloes A; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Vial Y; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Vignal C; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Vincent M; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Vincent-Delorme C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Vincent-Devulder A; Service de Génétique, CHU Caen, Caen, France.; Vitobello A; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Weber S; Service de Génétique, CHU Caen, Caen, France.; Willems M; Service de Génétique Médicale, CHU de Montpellier, Institute for Neurosciences of Montpellier, University of Montpellier, INSERM, Montpellier, France.; Zaafrane-Khachnaoui K; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France.; Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany.; Zeltner L; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.; Ziegler A; GCS AURAGEN, Lyon, France.; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Galej WP; European Molecular Biology Laboratory, EMBL Grenoble, Grenoble, France.; Dollfus H; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.; UMRS 1112, INSERM, Université de Strasbourg, Strasbourg, France.; Thauvin C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Marijon P; Laboratoire SeqOIA, Paris, France.; Lermine A; Laboratoire SeqOIA, Paris, France.; Malan V; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Rio M; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Isidor B; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Drunat S; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Smol T; Laboratoire SeqOIA, Paris, France.; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Chatron N; GCS AURAGEN, Lyon, France.; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PGNM), UCBL, CNRS UMR5261-INSERM, U1315, Lyon, France.; Piton A; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France.; GCS AURAGEN, Lyon, France.; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Nicolas G; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Wagner M; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Munich University Hospital, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Héron D; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Mignot C; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Blanc P; Laboratoire SeqOIA, Paris, France.; O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Whiffin N; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Charbonnier C; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Biostatistics and Reference Center for Developmental Abnormalities, Rouen, France.; Charenton C; CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104-UMR-S 1258, Illkirch, France.; Department of Integrated Structural Biology, IGBMC, Illkirch, France.; Thevenon J; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; Depienne C; Laboratoire SeqOIA, Paris, France. christel.depienne@uk-essen.de.; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. christel.depienne@uk-essen.de.
Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
Academic Journal
D'Addio F; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Division of Endocrinology, ASST Fatebenefratelli-Sacco, Milan, Italy.; Amabile G; Enthera, Milan, Italy.; Assi E; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Maestroni A; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Petrazzuolo A; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Loretelli C; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Abdelasalam A; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Ben Nasr M; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Boston Children's Hospital and Transplantation Research Center, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Pastore I; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Division of Endocrinology, ASST Fatebenefratelli-Sacco, Milan, Italy.; Lunati ME; Division of Endocrinology, ASST Fatebenefratelli-Sacco, Milan, Italy.; Usuelli V; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Zocchi M; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Seelam AJ; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Corradi D; Department of Medicine and Surgery, Unit of Pathology, University of Parma, Parma, Italy.; La Rosa S; Department of Medicine and Surgery, Università degli Studi dell'Insubria, Varese, Italy.; Marin V; Enthera, Milan, Italy.; Zangarini M; Enthera, Milan, Italy.; Nardini M; Enthera, Milan, Italy.; Porzio S; Enthera, Milan, Italy.; Canducci F; Enthera, Milan, Italy.; Nardini C; Enthera, Milan, Italy.; El Essawy B; Nephrology Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MassachuseLs, USA.; Department of Medicine, Al-Azhar University, Cairo, Egypt.; Nebuloni M; Pathology Unit, ASST-Fatebenefratelli Sacco and Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Yang J; Institute of Organ Transplantation, Tongji Hospital and Medical College, Huazhong University of Science and Technology, Wuhan, China.; Venturini M; Diagnostic and Interventional Radiology Department, Circolo Hospital, ASST Sette Laghi and School of Medicine and Surgery, Università degli Studi dell'Insubria, Varese, Italy.; Maconi G; Gastrointestinal Unit, ASST-Fatebenefratelli Sacco and Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Folli F; Endocrinology and Metabolism, Department of Health Science, Università di Milano, Diabetic and Metabolic Diseases Unit-ASST Santi Paolo e Carlo, Milan, Italy.; Danese S; Gastroenterology and Endoscopy, IRCCS Ospedale San Raffaele and Medicine and Surgery Department, Vita-Salute San Raffaele University, Milan, Italy.; Zuccotti G; Pediatric Clinical Research Center Romeo ed Enrica Invernizzi-Università di Milano and Buzzi Children's Hospital, Milan, Italy.; Sampietro GM; Division of General and HBP Surgery, Rho Memorial Hospital, ASST Rhodense, Milano, Italy.; Ardizzone S; Gastrointestinal Unit, ASST-Fatebenefratelli Sacco and Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Fiorina P; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy.; Division of Endocrinology, ASST Fatebenefratelli-Sacco, Milan, Italy.; Boston Children's Hospital and Transplantation Research Center, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
Academic Journal
Gianotti A; DiSTAL - Department of Agricultural and Food Sciences, Alma Mater Studiorum - University of Bologna, Food Science Campus, P.za G. Goidanich, 60, 47521 Cesena, Italy; CIRI - Interdepartmental Centre of Agri-Food Industrial Research, Alma Mater Studiorum - University of Bologna, P.za G. Goidanich, 60, 47521 Cesena, Italy.. Electronic address: andrea.gianotti@unibo.it.; Marin V; Dr. Schär R&D Centre, Area Science Park, Padriciano 99, 34149 Trieste, Italy.; Cardone G; Dr. Schär R&D Centre, Area Science Park, Padriciano 99, 34149 Trieste, Italy.; Bordoni A; DiSTAL - Department of Agricultural and Food Sciences, Alma Mater Studiorum - University of Bologna, Food Science Campus, P.za G. Goidanich, 60, 47521 Cesena, Italy; CIRI - Interdepartmental Centre of Agri-Food Industrial Research, Alma Mater Studiorum - University of Bologna, P.za G. Goidanich, 60, 47521 Cesena, Italy.; Mancini E; Private Nutritional Clinic, Piazza Polesani nel Mondo, 16, 45100, Boara Polesine (RO), Italy.; Magni M; Laimburg Research Centre, Auer (BZ), Italy.; Pichler A; Laimburg Research Centre, Auer (BZ), Italy.; Ciani S; Dr. Schär R&D Centre, Area Science Park, Padriciano 99, 34149 Trieste, Italy.; Polenghi O; Dr. Schär R&D Centre, Area Science Park, Padriciano 99, 34149 Trieste, Italy.; Cerne VL; Dr. Schär R&D Centre, Area Science Park, Padriciano 99, 34149 Trieste, Italy.; Nissen L; DiSTAL - Department of Agricultural and Food Sciences, Alma Mater Studiorum - University of Bologna, Food Science Campus, P.za G. Goidanich, 60, 47521 Cesena, Italy; CIRI - Interdepartmental Centre of Agri-Food Industrial Research, Alma Mater Studiorum - University of Bologna, P.za G. Goidanich, 60, 47521 Cesena, Italy.
Publisher: Published on behalf of the Canadian Institute of Food Science and Technology by Elsevier Applied Science Country of Publication: Canada NLM ID: 9210143 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-7145 (Electronic) Linking ISSN: 09639969 NLM ISO Abbreviation: Food Res Int Subsets: MEDLINE
Academic Journal
Andrés M; Infectious Diseases Unit, Internal Medicine Service, Consorci Sanitari de Terrassa, Barcelona, Spain. mandres@cst.cat.; Fajardo A; Infectious Diseases Unit, Internal Medicine Service, Consorci Sanitari de Terrassa, Barcelona, Spain.; García MC; Infectious Diseases Unit, Internal Medicine Service, Consorci Sanitari de Terrassa, Barcelona, Spain.; Grau L; Infectious Diseases Unit, Infection Control Team, Consorci Sanitari de Terrassa, Barcelona, Spain.; Angulo Y; Infectious Diseases Unit, Infection Control Team, Consorci Sanitari de Terrassa, Barcelona, Spain.; Marín V; Infectious Diseases Unit, Infection Control Team, Consorci Sanitari de Terrassa, Barcelona, Spain.; Plasencia V; Microbiology Laboratory, CATLAB, Viladecavalls, Spain.; Santillana G; Microbiology Laboratory, CATLAB, Viladecavalls, Spain.; Jiménez E; Microbiology Laboratory, CATLAB, Viladecavalls, Spain.; Ballestero M; Microbiology Laboratory, CATLAB, Viladecavalls, Spain.
Publisher: Springer Country of Publication: Germany NLM ID: 8804297 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-4373 (Electronic) Linking ISSN: 09349723 NLM ISO Abbreviation: Eur J Clin Microbiol Infect Dis Subsets: MEDLINE
Academic Journal
Marín V; Laboratory of Natural Products & Drug Discovery, Center CEBIM, Department of Basic Sciences, Faculty of Medicine, Universidad de La Frontera, Temuco 4780000, Chile.; Villegas C; Departamento de Ciencias Biológicas y Químicas, Facultad de Recursos Naturales, Universidad Católica de Temuco, Rudecindo Ortega, Temuco 4780000, Chile.; Ogundele AV; Laboratory of Natural Products & Drug Discovery, Center CEBIM, Department of Basic Sciences, Faculty of Medicine, Universidad de La Frontera, Temuco 4780000, Chile.; Cabrera-Pardo JR; Laboratorio de Química Aplicada y Sustentable (LabQAS), Departamento de Química, Universidad del Bío-Bío, Avenida Collao 1202, Concepcion 4051381, Chile.; College of Dental Medicine, Roseman University of Health Sciences, 10894 S. River Front Parkway, South Jordan, UT 84095, USA.; Schmidt B; Institut für Chemie, Universität Potsdam, Karl-Liebknecht-Str. 24-25, D-14476 Potsdam, Germany.; Paz C; Laboratory of Natural Products & Drug Discovery, Center CEBIM, Department of Basic Sciences, Faculty of Medicine, Universidad de La Frontera, Temuco 4780000, Chile.; Burgos V; Escuela de Tecnología Médica, Facultad de Salud, Universidad Santo Tomás, Temuco 4780000, Chile.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 100964009 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-3049 (Electronic) Linking ISSN: 14203049 NLM ISO Abbreviation: Molecules Subsets: MEDLINE
Academic Journal
Karimi K; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Lichtenstein Y; Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; Reilly J; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; McConkey H; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Relator R; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Levy MA; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Kerkhof J; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Symonds JD; The Paediatric Neurosciences Research Group, Royal Hospital for Children, and School of Health and Wellbeing, University of Glasgow, Member of the ERN EpiCARE, Glasgow, UK.; Ghoumid J; Université de Lille, CHU Lille, ULR 7364 - RADEME - Maladies Rares du Développement embryonnaire et du Métabolisme, 59000 Lille, France.; Smol T; Université de Lille, CHU Lille, ULR 7364 - RADEME - Maladies Rares du Développement embryonnaire et du Métabolisme, 59000 Lille, France.; Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA.; Drazba K; Greenwood Genetic Center, Greenwood, SC, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA.; Miranda V; Department of Pediatrics, University of Montreal, Montreal, QC, Canada.; McCann C; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Motta J; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Lancaster E; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Sallevelt S; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, SA, Australia.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.; Morrison J; Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL, USA.; Hannibal M; Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA.; O'Shea J; Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA.; Marin V; Medical Genetic Laboratory, CHU Bordeaux, 33000 Bordeaux, France.; Prasad C; Department of Pediatrics, Section of Genetics and Metabolism London Health Sciences Center, Western University, London, ON, Canada.; Patel C; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Brisbane, QLD 4029, Australia.; Raskin S; Postgraduate Program in Child and Adolescent, Department of Pediatrics, Federal University of Paraná, Curitiba, Parana, Brazil.; Maria-Noelia SM; Laboratory Medicine Department, Hospital Universitario La Paz, Madrid, Spain.; Diaz de Bustamante A; Clinical Genetics Department, Hospital Universitario de Móstoles, Madrid, Spain.; Marom D; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Barkan T; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Keren B; La Pitié-Salpêtrière Hospital, Genetic Department, AP-HP Sorbonne University, Paris, France.; Poirsier C; Department of Genetics, Reims University Hospital, Reims, France.; Cohen L; Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel; Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel.; Colin E; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France.; Gorman K; Department of Paediatric Neurology and Neurophysiology, Children's Health Ireland at Temple St., Dublin 1, Ireland; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Gallant E; Advocate Children's Pediatric Genetics, Oak Lawn, IL, USA.; Menke LA; Amsterdam UMC - location University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands; Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Meibergdreef 9, Amsterdam, the Netherlands.; Valenzuela Palafoll I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Hauser N; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA 22042, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA.; Rankin J; Department of Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Turnpenny PD; Department of Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC, Canada.; Balci TB; Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Tedder ML; Greenwood Genetic Center, Greenwood, SC, USA.; Sadikovic B; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.; Weiss K; Genetics Institute, Rambam Health Care Campus, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address: k_weiss@rambam.health.gov.il.
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Academic Journal
Möller B; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Becker LL; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Institute for Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Saffari A; Heidelberg University, Medical Faculty Heidelberg, University Hospital Heidelberg, Center for Pediatrics and Adolescent Medicine, Department of Pediatrics I, Division of Child Neurology and Metabolic Medicine, 69120 Heidelberg, Germany.; Afenjar A; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Intellectual Disabilities of Rare Causes, Department of Genetics and Medical Embryology, Sorbonne University, Trousseau Hospital Paris, 75012 Paris, France.; Coci EG; Department of Paediatrics, Otto-von-Guericke-University Magdeburg, 39120 Magdeburg, Germany.; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.; Williamson R; Akron Children's Hospital Genetic Center, Akron, OH 44308, USA.; Ward-Melver C; Akron Children's Hospital Genetic Center, Akron, OH 44308, USA.; Gibaud M; Service de pédiatrie, CHU de Nantes, 44000 Nantes, France.; Sedláčková L; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; Laššuthová P; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; Libá Z; Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; Vlčková M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; William N; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55901, USA.; Klee EW; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Gavrilova RH; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Lévy J; Genetics Department, AP-HP, Robert-Debré University Hospital, 75019 Paris, France.; Capri Y; Genetics Department, AP-HP, Robert-Debré University Hospital, 75019 Paris, France.; Scavina M; Division of Neurology, Nemours Children's Health, Wilmington, Delaware 19803, USA.; Körner RW; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Valivullah Z; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA.; Weiß C; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Möller GM; Berlin University of Applied Sciences and Technology, 10587 Berlin, Germany.; Frazier Z; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Roberts A; Center for Cardiovascular Genetics, Boston Children's Hospital, Boston, MA 02115, USA.; Gener B; Department of Genetics, Cruces University Hospital, Biobizkaia Health Research Institute, Barakaldo 48903, Spain.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.; Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Thiel M; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.; Kamsteeg EJ; Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892, USA.; Duboc V; Department of Medical Genetics, Université Côte D'Azur, Centre Hospitalier Universitaire Nice, 06000 Nice, France.; Zaafrane-Khachnaoui K; Department of Medical Genetics, Université Côte D'Azur, Centre Hospitalier Universitaire Nice, 06000 Nice, France.; Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Trust, Cambridge CB2 3EH, UK.; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine unit, Kasr Al-Ainy School of Medicine, Cairo University, 4390330 Cairo, Egypt.; Selim L; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine unit, Kasr Al-Ainy School of Medicine, Cairo University, 4390330 Cairo, Egypt.; Margot H; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France.; Marin V; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France.; Beneteau C; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France.; Isidor B; Genetics Department, Nantes University, CHU de Nantes, 44000 Nantes, France.; Cogne B; Genetics Department, Nantes University, CHU de Nantes, 44000 Nantes, France.; Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, 75013 Paris, France.; Küsters B; Department of Pathology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Beggs AH; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02445, USA.; Sveden A; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Chopra M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Genetti CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02445, USA.; Nicolai J; Department of Neurology, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.; Dötsch J; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Koy A; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892, USA.; von der Hagen M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany.; von Kleist-Retzow JC; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Voermans NC; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6525 Nijmegen, The Netherlands.; Jungbluth H; Department of Paediatric Neurology-Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1YR, UK.; Dafsari HS; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Department of Paediatric Neurology-Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1YR, UK.; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Academic Journal
Desaegher A; Department of Biochemistry, Bordeaux University Hospital, Place Amélie Raba Léon, 33076 Bordeaux, France.; Marin V; Department of Biochemistry, Bordeaux University Hospital, Place Amélie Raba Léon, 33076 Bordeaux, France.; Beauvieux MC; Department of Biochemistry, Bordeaux University Hospital, Place Amélie Raba Léon, 33076 Bordeaux, France; Univ. Bordeaux, CNRS, CRMSB, UMR 5536, F-33000 Bordeaux, France.; Colombiès B; Department of Biochemistry, Bordeaux University Hospital, Place Amélie Raba Léon, 33076 Bordeaux, France.; Lauga M; Department of Biochemistry, Bordeaux University Hospital, Place Amélie Raba Léon, 33076 Bordeaux, France.; Alloug S; Department of Biochemistry, Bordeaux University Hospital, Place Amélie Raba Léon, 33076 Bordeaux, France.; Kalkan S; Department of Biochemistry, Bordeaux University Hospital, Place Amélie Raba Léon, 33076 Bordeaux, France.; Castaing-Mouhica G; Cellule de Biologie Délocalisée, Bordeaux University Hospital, Place Amélie Raba Léon, 33076 Bordeaux, France.; Lacape G; Department of Biochemistry, Bordeaux University Hospital, Place Amélie Raba Léon, 33076 Bordeaux, France.; Rucheton B; Department of Biochemistry, Bergonié Cancer Institute, F-33000 Bordeaux, France.; Doublet J; Department of Cardiology, Bordeaux University Hospital, 1 rue Jean Burguet, 33000 Bordeaux, France.; Dabernat S; Department of Biochemistry, Bordeaux University Hospital, Place Amélie Raba Léon, 33076 Bordeaux, France; Univ. Bordeaux, INSERM, BRIC, U1312, F-33000 Bordeaux, France.; Bats ML; Department of Biochemistry, Bordeaux University Hospital, Place Amélie Raba Léon, 33076 Bordeaux, France; Univ. Bordeaux, INSERM, BMC, U1034, F-33600 Pessac, France. Electronic address: marie-lise.bats@chu-bordeaux.fr.
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE
Academic Journal
Hassan A; Department of Dermatology and Pediatric Dermatology, National Reference Centre for Rare Disorders, Hôpital des Enfants Pellegrin, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Morice-Picard F; Department of Dermatology and Pediatric Dermatology, National Reference Centre for Rare Disorders, Hôpital des Enfants Pellegrin, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Marin V; Department of Biochemistry, Hôpital Pellegrin, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Lasseaux Robine E; Institut Bergonié, Unité d'Oncogénétique, Bordeaux, France.; Lebreton L; Department of Biochemistry, Hôpital Pellegrin, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Davaze-Schneider J; Department of Biochemistry, Hôpital Pellegrin, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
Publisher: Oxford University Press Country of Publication: England NLM ID: 7606847 Publication Model: Print Cited Medium: Internet ISSN: 1365-2230 (Electronic) Linking ISSN: 03076938 NLM ISO Abbreviation: Clin Exp Dermatol Subsets: In Process; MEDLINE
Academic Journal
Marin V; Laboratory of Biochemistry, University Hospital Centre Bordeaux, Bordeaux, France.; University of Bordeaux, Inserm, UMR1312, BRIC, BoRdeaux Institute of Oncology, Bordeaux, Aquitaine, France.; Huguenin Y; University Hospital Centre Bordeaux, Pellegrin Hospital Group Children's Hospital, Pediatry Bordeaux, Bordeaux, France.; Bessi L; Hospital Centre Pau, Pediatry, Pau, Aquitaine-Limousin-Poitou, France.; Weinmann L; Laboratory of Hematology, University Hospital Centre Bordeaux, Bordeaux, France.; Augis V; Laboratory of Hematology, University Hospital Centre Bordeaux, Bordeaux, France.; Desclaux A; Infectious Diseases and Tropical Medicine, University Hospital Centre Bordeaux, Bordeaux, France.; Lebreton L; Laboratory of Biochemistry, University Hospital Centre Bordeaux, Bordeaux, France.; Dulucq S; University of Bordeaux, Inserm, UMR1312, BRIC, BoRdeaux Institute of Oncology, Bordeaux, Aquitaine, France.; Laboratory of Hematology, University Hospital Centre Bordeaux, Bordeaux, France.; Boutin J; Laboratory of Biochemistry, University Hospital Centre Bordeaux, Bordeaux, France.; University of Bordeaux, Inserm, UMR1312, BRIC, BoRdeaux Institute of Oncology, Bordeaux, Aquitaine, France.
Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE
Academic Journal
Marin V; Service de Biochimie, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France.; Lebreton L; Service de Biochimie, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France.; Guibet C; Service de Biochimie, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France.; INSERM BRIC U1312 Université de Bordeaux, Bordeaux, France.; Mesli S; Service de Biochimie, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France.; Redonnet-Vernhet I; Service de Biochimie, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France.; Dexant M; Service de Biochimie, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France.; Lamireau D; Hôpital Pédiatrique, Pôle Pédiatrique, CHU de Bordeaux, Bordeaux, France.; Roche S; Hôpital Pédiatrique, Pôle Pédiatrique, CHU de Bordeaux, Bordeaux, France.; Gaschignard M; Hôpital Pédiatrique, Pôle Pédiatrique, CHU de Bordeaux, Bordeaux, France.; Delmas J; Service d'Imagerie Anténatale, de l'Enfant et de la Femme, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France.; Margot H; Department of Medical Genetics, University of Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Bordeaux, France.; Bar C; Service de Neurologie Pédiatrique, CHU Bordeaux, University Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, Bordeaux, France.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Academic Journal
Rivera A; Faculty of Human Medicine, Universidad de Piura, Lima, Peru.; Marín V; Faculty of Human Medicine, Universidad de Piura, Lima, Peru.; Romaní F; Faculty of Human Medicine, Universidad de Piura, Lima, Peru.
Publisher: Public Library of Science Country of Publication: United States NLM ID: 9918283779606676 Publication Model: eCollection Cited Medium: Internet ISSN: 2767-3375 (Electronic) Linking ISSN: 27673375 NLM ISO Abbreviation: PLOS Glob Public Health Subsets: PubMed not MEDLINE
Academic Journal
Evtukh A; V. Lashkaryov Institute of Semiconductor Physics, National Academy of Sciences of Ukraine, 41 Nauky ave., Kyiv 03028, Ukraine.; Institute of High Technologies, Taras Shevchenko National University of Kyiv, 60 Volodymyrska Str., Kyiv 01033, Ukraine.; Kizjak A; V. Lashkaryov Institute of Semiconductor Physics, National Academy of Sciences of Ukraine, 41 Nauky ave., Kyiv 03028, Ukraine.; Bratus O; V. Lashkaryov Institute of Semiconductor Physics, National Academy of Sciences of Ukraine, 41 Nauky ave., Kyiv 03028, Ukraine.; Antonin S; V. Lashkaryov Institute of Semiconductor Physics, National Academy of Sciences of Ukraine, 41 Nauky ave., Kyiv 03028, Ukraine.; Muryi Y; Institute of High Technologies, Taras Shevchenko National University of Kyiv, 60 Volodymyrska Str., Kyiv 01033, Ukraine.; Marin V; Institute of High Technologies, Taras Shevchenko National University of Kyiv, 60 Volodymyrska Str., Kyiv 01033, Ukraine.; Ilchenko V; Institute of High Technologies, Taras Shevchenko National University of Kyiv, 60 Volodymyrska Str., Kyiv 01033, Ukraine.
Publisher: American Chemical Society Country of Publication: United States NLM ID: 101088070 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-6992 (Electronic) Linking ISSN: 15306984 NLM ISO Abbreviation: Nano Lett Subsets: PubMed not MEDLINE; MEDLINE
Academic Journal
Pérez R; Laboratory of Natural Products & Drug Discovery, Center CEBIM, Department of Basic Sciences, Faculty of Medicine, Universidad de La Frontera, Temuco 4780000, Chile.; Burgos V; Departamento de Ciencias Biológicas y Químicas, Facultad de Recursos Naturales, Universidad Católica de Temuco, Rudecindo Ortega, Temuco 4780000, Chile.; Marín V; Laboratory of Natural Products & Drug Discovery, Center CEBIM, Department of Basic Sciences, Faculty of Medicine, Universidad de La Frontera, Temuco 4780000, Chile.; Camins A; Department of Pharmacology, Toxicology and Therapeutic Chemistry, Faculty of Pharmacy and Food Sciences, Universitat de Barcelona, 08028 Barcelona, Spain.; Institut de Neurociències (UBNeuro), Universitat de Barcelona, 08028 Barcelona, Spain.; Biomedical Research Networking Centre in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Olloquequi J; Department of Biochemistry and Physiology, Faculty of Pharmacy and Food Sciences, Universitat de Barcelona, 08028 Barcelona, Spain.; Institute of Biomedical Sciences, Faculty of Health Sciences, Universidad Autónoma de Chile, Talca 3460000, Chile.; González-Chavarría I; Departamento de Fisiopatología, Facultad de Ciencias Biológicas Universidad de Concepción, Concepción 4030000, Chile.; Ulrich H; Department of Biochemistry, Instituto de Química, Universidad de São Paulo, Av. Prof. Lineu Prestes 748, São Paulo 05508-000, SP, Brazil.; Wyneke U; Facultad de Medicina, Universidad de Los Andes, Santiago 111711, Chile.; Center of Interventional Medicine for Precision and Advanced Cellular Therapy (IMPACT), Santiago 7620001, Chile.; Luarte A; Facultad de Medicina, Universidad de Los Andes, Santiago 111711, Chile.; Center of Interventional Medicine for Precision and Advanced Cellular Therapy (IMPACT), Santiago 7620001, Chile.; Ortiz L; Instituto de Ciencias Químicas, Facultad de Ciencias, Universidad Austral de Chile, Casilla 567, Valdivia 5110566, Chile.; Paz C; Laboratory of Natural Products & Drug Discovery, Center CEBIM, Department of Basic Sciences, Faculty of Medicine, Universidad de La Frontera, Temuco 4780000, Chile.
Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101668981 Publication Model: Electronic Cited Medium: Print ISSN: 2076-3921 (Print) Linking ISSN: 20763921 NLM ISO Abbreviation: Antioxidants (Basel) Subsets: PubMed not MEDLINE
Academic Journal
Ekstrand J; Unit of Community Medicine, Department of Health, Medicine and Caring Sciences, Linköping University, Platensgatan 19, S-582 20, Linköping, Sweden. jan.ekstrand@telia.com.; Football Research Group, Linköping, Sweden. jan.ekstrand@telia.com.; Hallén A; Unit of Community Medicine, Department of Health, Medicine and Caring Sciences, Linköping University, Platensgatan 19, S-582 20, Linköping, Sweden.; Football Research Group, Linköping, Sweden.; Marin V; Isokinetic Medical Group, FIFA Medical Centre of Excellence, London, UK.; Gauffin H; Department of Orthopedics and Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
Publisher: Wiley Country of Publication: Germany NLM ID: 9314730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-7347 (Electronic) Linking ISSN: 09422056 NLM ISO Abbreviation: Knee Surg Sports Traumatol Arthrosc Subsets: MEDLINE
Academic Journal
Marín V; Laboratory of Natural Products & Drug Discovery, Center CEBIM, Department of Basic Sciences, Faculty of Medicine, Universidad de La Frontera, Temuco 4780000, Chile.; Burgos V; Departamento de Ciencias Biológicas y Químicas, Facultad de Recursos Naturales, Universidad Católica de Temuco, Rudecindo Ortega, Temuco 02950, Chile.; Departamento de Ciencias Básicas, Facultad de Ciencias, Universidad Santo Tomas, Temuco 4780000, Chile.; Pérez R; Laboratory of Natural Products & Drug Discovery, Center CEBIM, Department of Basic Sciences, Faculty of Medicine, Universidad de La Frontera, Temuco 4780000, Chile.; Maria DA; Development and Innovation Laboratory, Butantan Institute, Sao Paulo 1500, Brazil.; Pardi P; Nucleo de Pesquisas NUPE/ENIAC University Center, Guarulhos 07012-030, Brazil.; Paz C; Laboratory of Natural Products & Drug Discovery, Center CEBIM, Department of Basic Sciences, Faculty of Medicine, Universidad de La Frontera, Temuco 4780000, Chile.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Academic Journal
D'Addio F; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, DIBIC, Università di Milano, Milan, Italy.; Division of Endocrinology, ASST Fatebenefratelli-Sacco, Milan, Italy.; Montefusco L; Division of Endocrinology, ASST Fatebenefratelli-Sacco, Milan, Italy.; Lunati ME; Division of Endocrinology, ASST Fatebenefratelli-Sacco, Milan, Italy.; Pastore I; Division of Endocrinology, ASST Fatebenefratelli-Sacco, Milan, Italy.; Assi E; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, DIBIC, Università di Milano, Milan, Italy.; Petrazzuolo A; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, DIBIC, Università di Milano, Milan, Italy.; Marin V; Enthera s.r.l.; Bruckmann C; Enthera s.r.l.; Fiorina P; International Center for T1D, Pediatric Clinical Research Center Romeo ed Enrica Invernizzi, DIBIC, Università di Milano, Milan, Italy.; Division of Endocrinology, ASST Fatebenefratelli-Sacco, Milan, Italy.; Nephrology Division, Boston Children's Hospital and Transplantation Research Center, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Publisher: Wiley Country of Publication: United States NLM ID: 8510851 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-1878 (Electronic) Linking ISSN: 02659247 NLM ISO Abbreviation: Bioessays Subsets: MEDLINE
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