학술논문
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'학술논문'
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Academic Journal
In: Psychologie Francaise . (Psychologie Francaise, September 2023, 68(3):407-426)
Academic Journal
Le Hir-Reynaud, E.; Soubise, B.; Mendoza, A.M.; Konan, C.; Commet, S.; Gueganic, N.; Tous, C.; Corcos, L.; Douet-Guilbert, N.; Troadec, M.-B.
In: Biochimica et Biophysica Acta - Molecular Cell Research . (Biochimica et Biophysica Acta - Molecular Cell Research, August 2025, 1872(6))
Academic Journal
Radiotherapy and Oncology. 111:S291-S291
Academic Journal
In: Nippon Jibiinkoka Gakkai Kaiho . (Nippon Jibiinkoka Gakkai Kaiho, 1995, 98(4):619-626755)
Academic Journal
Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie Pier; Chapalain, Solene; Commet, Severine; Gonzaga-Jauregui, Claudia; Hiatt, Susan; Haynes, Devon; Kruer, Michael; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Kato, Kohji; Ferre, Merry; Zhu, Changlian; Brunet, Theresa; Doco-Fenzy, Martine; Courtin, Thomas; Celine, Poirsier; Hammer, Trine Bjorg; Roscioli, Tony; MacPherson, Melissa; Leonard, Jacqueline; Li, Dong; Glass, Ian; Ward, Scott; Campeau, Philippe M.; Lippert, Eric; Corcos, Laurent; Ferec, Claude; Droit, Arnaud; Kury, Sebastien; Bernard, Delphine
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Academic Journal
Uguen K; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficience Intellectuelle et Polyhandicap de causes rares, CHU de Brest, Brest, France.; Bergot T; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Currently in the Division of Structural Biology, The Institute of Cancer Research, London, England.; Scott-Boyer MP; CHU de Québec-Laval University Research Center, Quebec City, QC, Canada.; Chapalain S; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Desdouets C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Commet S; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Zhu C; Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Xu Y; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Wang Y; Institutes of Biomedical Sciences and Children's Hospital, Fudan University, Shanghai, China.; Roscioli T; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Neuroscience Research Australia (NeuRA), University of New South Wales Sydney, Sydney, NSW, Australia.; Tran-Mau-Them F; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire-Inserm UMR1231, équipe GAD, Dijon, France.; Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy, Dijon, France.; Maraval J; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy, Dijon, France.; Delanne J; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy, Dijon, France.; Denommé-Pichon AS; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire-Inserm UMR1231, équipe GAD, Dijon, France.; Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire-Inserm UMR1231, équipe GAD, Dijon, France.; Jost C; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy, Dijon, France.; Planes M; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficience Intellectuelle et Polyhandicap de causes rares, CHU de Brest, Brest, France.; Hiatt S; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Wheeler P; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.; Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, México.; Wang H; DDC Clinic for Special Needs Children, Middlefield, OH, USA.; Xin B; DDC Clinic for Special Needs Children, Middlefield, OH, USA.; Sency V; DDC Clinic for Special Needs Children, Middlefield, OH, USA.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.; Sulem P; deCODE Genetics/Amgen, Inc, Reykjavik, Iceland.; Curry C; Genetic Medicine, University of California, San Francisco, Fresno, CA, USA.; Prescott T; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Strobl-Wildemann G; Department of Human Genetics, MVZ Humangenetik Ulm, Ulm, Germany.; Brunet T; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Doco Fenzy M; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Courtin T; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Département de Génétique, DMU BioGeM, Paris, France.; Poirsier C; Département de génétique médicale, CHU Reims, Reims, France.; Bjørg Hammer T; Department of Epilepsy Genetics and Personalized Treatment, The Filadelfia Danish Epilepsy Centre, Dianalund, Denmark.; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Fenger CD; Department of Epilepsy Genetics and Personalized Treatment, The Filadelfia Danish Epilepsy Centre, Dianalund, Denmark.; MacPherson M; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Alberta Health Services, Edmonton, AB, Canada.; Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Leonard J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Glass IA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Ward S; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Campeau PM; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada.; Borroto MCH; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada.; Le Moigno L; Service de Pédiatrie et Unité d'Urgence Pédiatrique, Centre Hospitalier de Cornouaille, Quimper, France.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, Leuven, Belgium.; De Waele L; Department of Child Neurology, University Hospitals Leuven, Herestraat 49, Leuven, Belgium.; Calame DG; Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Peduto C; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Planté-Bordeneuve P; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Dupuis L; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Stavropoulos DJ; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.; Gillibert-Duplantier J; VECT'UB, TBMCore, CNRS UAR 3427, INSERM US005, Université de Bordeaux, Bordeaux, France.; Besnard T; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Do Souto Ferreira L; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Cogné B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Bézieau S; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Droit A; CHU de Québec-Laval University Research Center, Quebec City, QC, Canada.; Department of Molecular Medicine, Faculty of Medicine, Laval University, Quebec City, QC, Canada.; Corcos L; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Lippert E; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service d'hématologie biologique, CHU de Brest, Brest, France.; CRB Santé du CHU de Brest, Brest, France.; Férec C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Küry S; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Bernard DG; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France. delphine.bernard@univ-brest.fr.; CRB Santé du CHU de Brest, Brest, France. delphine.bernard@univ-brest.fr.
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Academic Journal
In: Surgery for Obesity and Related Diseases . (Surgery for Obesity and Related Diseases, January 2019, 15(1):20-22)
Academic Journal
Jutel, Marek ; Agache, Ioana ; Bonini, Sergio ; Burks, A. Wesley ; Calderon, Moises ; Canonica, Walter ; Cox, Linda ; Demoly, Pascal ; Frew, Antony J. ; O'Hehir, Robin ; Kleine-Tebbe, Jörg ; Muraro, Antonella ; Lack, Gideon ; Larenas, Désirée ; Levin, Michael ; Nelson, Harald ; Pawankar, Ruby ; Pfaar, Oliver ; van Ree, Ronald ; Sampson, Hugh ; Santos, Alexandra F. ; Du Toit, George ; Werfel, Thomas ; Gerth van Wijk, Roy ; Zhang, Luo ; Akdis, Cezmi A.
In The Journal of Allergy and Clinical Immunology September 2015 136(3):556-568
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Pakistan Law Reporter. May 29, 2017
Academic Journal
Jakobczyk, H.; Debaize, L.; Avner, S.; Rouger-Gaudichon, J.; Rio, A.-G.; Salbert, G.; Galibert, M.-D.; Gandemer, V.; Troadec, M.-B.; Soubise, B.; Commet, S.; Jiang, Y.; Corcos, L.; Sérandour, A.A.; Carroll, J.S.; Wichmann, C.; Lie-a-Ling, M.; Lacaud, G.
In: Journal of Hematology and Oncology . (Journal of Hematology and Oncology, December 2021, 14(1))
Academic Journal
Academic Journal
Dunn, Ian F.; Friedlander, Robert M.; Barrow, Daniel L.; Kondziolka, Douglas; Grossman, Robert G.; Hawryluk, Gregory; Rutka, James T.
Academic Journal
Annales francaises d'anesthesie et de reanimation. 33:A249-A250
Academic Journal
More, A. S.; Patel, J. H.; Varia, R. D.; Vihol, P. D.; Singh, Ratndeep; Patel, U. D.; Bhavsar, S. K.; Thaker, A. M.; Jadav, S.
Academic Journal
Zhao, Dan; Shui, Jiang-Lan; Grabstanowicz, Lauren R.; Chen, Chen; Commet, Sean M.; Xu, Tao; Lu, Jun; Liu, Di-Jia
Academic Journal
Busse, M.; Quinn, L.; DeBono, K.; Jones, K.; Collett, J.; Playle, R.; Kelly, M.; Backx, K.; Dawes, H.; Rosser, A.; COMMET-HD Management Grp
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