학술논문


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'학술논문' 에서 검색결과 525건 | 목록 1~20
Academic Journal
Lopriore P; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.; Scuola Superiore Sant'Anna, Ph.D. School in Translational Medicine, Pisa, Italy.; Ünlütürk Z; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.; Neurology Clinic, University of Health Sciences Kocaeli Derince Training Hospital, Turkey.; Klopstock T; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Karaa A; Massachusetts General Hospital Genetics Division, Harvard Medical School, Boston, MA.; Rouzier C; Service de génétique médicale, Centre de référence des maladies mitochondriales, CHU Nice, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice, France.; Domínguez-González C; Servicio de Neurología - Unidad de Neuromuscular - ERN-NMD CIBERER. Instituto de Investigación imas12. Hospital Universitario 12 de Octubre Madrid, Spain.; Lamperti C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Medical Genetics and Neurogenetics Unit, Milan, Italy.; Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.; Cecchi G; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.; Montano V; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.; Siciliano G; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.; Nicoletta V; Fondazione IRCCS Istituto Neurologico Carlo Besta, Medical Genetics and Neurogenetics Unit, Milan, Italy.; Maioli M; Ospedale Binaghi, Cagliari, Italy.; Primiano G; Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.; Servidei S; Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.; La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.; Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.; Valentino ML; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.; Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Arena IG; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Italy.; Musumeci O; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Italy.; Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, Siena, Italy.; Malandrini A; Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, Siena, Italy.; Gallus GN; Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, Siena, Italy.; Filosto M; NeMO- Brescia Clinical Center for Neuromuscular Diseases; Department of Clinical and Experimental Sciences, University of Brescia, Italy.; Bello L; Department of Neurosciences, University of Padova, Padua, Italy.; Pegoraro E; Department of Neurosciences, University of Padova, Padua, Italy.; Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Italy.; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Magri F; Neuromuscular and Rare Disease Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Italy.; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Di Fonzo A; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Percetti M; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Italy.; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Azzimonti M; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Büchner B; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München, Germany.; Prokisch H; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum Munich, Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Germany.; German Center for Child and Adolescent Health (DZKJ), Partner Site Munich, Germany.; Bermejo-Guerrero L; Servicio de Neurología - Unidad de Neuromuscular - ERN-NMD CIBERER. Instituto de Investigación imas12. Hospital Universitario 12 de Octubre Madrid, Spain.; Procaccio V; Department of Genetics, CHU Angers, Univ Angers, UMR CNRS 6015-INSERM U1083, France.; Gaignard P; Department of Biochemistry, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, France.; Echaniz-Laguna A; Department of Neurology, Bicêtre Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, France.; Schiff M; Reference Center for Mitochondrial Disorders (CARAMMEL) and Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris-Cité, MetabERN, France.; INSERM UMRS_1163, Imagine Institute, Paris, France.; Rötig A; INSERM UMRS_1163, Imagine Institute, Paris, France.; Toutain A; Service de Génétique, Centre Hospitalier Universitaire de Tours; UMR 1253, iBrain, Université de Tours, Inserm, France.; Paquis-Flucklinger V; Service de génétique médicale, Centre de référence des maladies mitochondriales, CHU Nice, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice, France.; Morel G; Service de génétique CHU de la Réunion - Hôpital Félix Guyon Bellepierre 97405 SAINT-DENIS, France.; Robin S; Service de pédiatrie CHU de la Réunion - Hôpital Félix Guyon Bellepierre 97405 SAINT-DENIS.; Nadaj-Pakleza A; Centre de Référence des Maladies Neuromusculaires Nord / Est / Ile-de-France and ERN Euro-NMD, Service de Neurologie, Hôpitaux Universitaires de Strasbourg, France.; Chanson JB; Centre de Référence des Maladies Neuromusculaires Nord / Est / Ile-de-France and ERN Euro-NMD, Service de Neurologie, Hôpitaux Universitaires de Strasbourg, France.; Chaussenot A; Service de génétique médicale, Centre de référence des maladies mitochondriales, CHU Nice, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice, France.; Ait-El-Mkadem Saadi S; Service de génétique médicale, Centre de référence des maladies mitochondriales, CHU Nice, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice, France.; Trimouille A; Univ. Bordeaux, Inserm U1211 MRGM, Bordeaux, France.; CHU Bordeaux, Service de Pathologie, Bordeaux, France.; Tranchant C; Service de Neurologie, HôpitauxUniversitaires de Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France.; Fédération de MédecineTranslationnelle de Strasbourg (FMTS), Université de Strasbourg, France.; Salort-Campana E; Neuromuscular reference center PACA Réunion Rhône Alpes, department of Pr Attarian, La Timone Hospital, CHU deMarseille, 264 Rue Saint-Pierre, France.; FILNEMUS, neuromuscular rare diseases health care professional network, La Timone hospital, CHU de Marseille, 264 Rue Saint-Pierre, France.; Bieth E; Service de GénétiqueMédicale, Hopital Purpan, Toulouse, France.; Sacconi S; Peripheral Nervous System and Muscle Department, Université Cote d'Azur, CHU, Nice, France.; Duval F; Service de Neurologie et Maladies Neuromusculaires (F.D.), Groupe Hospitalier Pellegrin, Hôpitaux de Bordeaux.; Restrepo Vera JL; Department of Neurology, NeuromuscularDiseases Unit, Hospital Universitari Vall d'Hebron, UniversitatAutònoma de Barcelona, Spain.; Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University Clinical Center, Budapest, Hungary.; Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.; Haas R; Department of Neurosciences and Pediatrics, UCSD Medical Center and Rady Children's Hospital San Diego, La Jolla, CA.; Larson A; Section of Genetics, Department of Pediatrics, University of Colorado Denver and Children's Hospital Colorado, Aurora, CO.; Enns GM; Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital, Palo Alto, CA.; Parikh S; Mitochondrial Medicine Center, Department of Neurology, Center for Child Neurology, Cleveland Clinic Children's Hospital, OH.; Goldstein A; Children's Hospital of Philadelphia, PA; and.; Hirano M; Department of Neurology, Columbia University Medical Center, New York.
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE
Book
Œuvres complètes de Voltaire (Complete Works of Voltaire) 146 ISBN: 9781837640034
Academic Journal
Bulletin de la Société préhistorique de France, 1913 Jul 01. 10(7), 423-432.
Academic Journal
Almousa H; Department of Biology, Concordia University, Montreal, Quebec H4B1R6, Canada.; Lewis SA; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Nordlie SH; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Pagnozzi A; CSIRO Health and Biosecurity, The Australian e-Health Research Centre, Brisbane 4029, Australia.; Magee H; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Heim JA; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Cornejo P; Pediatric Neuroradiology Division, Pediatric Radiology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA.; Department of Radiology, Mayo Clinic, Scottsdale, AZ 85259, USA.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12622, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo 4460015, Egypt.; Anwar N; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Maqbool S; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Rahman F; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Neilson DE; Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Vemuri A; Department of Pathology, University of Chicago, Chicago, IL 60637, USA.; Jin SC; Department of Genetics, Washington University, St.Louis, MO 63110, USA.; Yang XR; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, S.W. Calgary, AB T2N 4N1, Canada.; Heidari A; Reference Laboratory, Qazvin Medical University, Qazvin 34148-33245, Iran.; van Gassen K; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands.; Trimouille A; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, CHU Bordeaux-Hôpital Pellegrin, Place Amélie Raba Léon, 33000 Bordeaux, France.; Thauvin-Robinet C; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, 21078 Dijon, France.; Liu J; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Bruel AL; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, 21078 Dijon, France.; Tomoum H; Department of Pediatrics, Ain Shams University, Cairo 11516, Egypt.; Shata MO; Department of Pediatrics, Ain Shams University, Cairo 11516, Egypt.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 13944-91388, Iran.; Neuroscience Research Center, Mashhad University of Medical Science, Mashhad 13944-91388, Iran.; Karimiani EG; Molecular and Clinical Sciences Institute, St.George's, University of London, London SW17 0RE, UK.; Yeşil G; Istanbul Medical Faculty Department of Medical Genetics, Istanbul University, Istanbul 34452, Turkey.; Lingappa L; Pediatric Neurology, Rainbow Children Hospital, Hyderabad 500034, India.; Baruah D; Pediatric Neurology, Rainbow Children Hospital, Hyderabad 500034, India.; Ebrahimzadeh F; Department of Internal Medicine, Mashhad University of Medical Sciences, Mashhad 13944-91388, Iran.; Van-Gils J; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands.; Faivre L; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 6155889467, Iran.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135733118, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 6155889467, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135733118, Iran.; Mohammad R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; van der Smagt J; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands.; Qari A; Medical Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.; Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON M6J 1H4, Canada.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, S.W. Calgary, AB T2N 4N1, Canada.; Dursun A; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey.; Özgül RK; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey.; Akar HT; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey.; Bilguvar K; Department of Medical Genetics, Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey.; Department of Neurosurgery and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.; Mignot C; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, 75012 Paris, France.; Keren B; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France.; Raveli C; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, 75012 Paris, France.; Burglen L; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, APHP. Sorbonne Université, Hôpital Trousseau, 75012 Paris, France.; Afenjar A; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, APHP. Sorbonne Université, Hôpital Trousseau, 75012 Paris, France.; Kaat LD; Department of Clinical Genetics, Erasmus Medical Center, 3000 Rotterdam, The Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus Medical Center, 3000 Rotterdam, The Netherlands.; Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Padilla-Lopez S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Sacher M; Department of Biology, Concordia University, Montreal, Quebec H4B1R6, Canada.; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec H3A0C7, Canada.; Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.
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
Diallo M; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France.; Defay-Stinat A; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France.; Gindensperger V; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France.; Sequeira A; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France.; Trimouille A; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France.; Javerzat S; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France.; Bourgeade L; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Plaisant C; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Lasseaux E; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Michaud V; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Drumare I; Service d'Exploration Fonctionnelle de la Vision et de Neuro-Ophtalmologie, Centre Hospitalier Universitaire de Lille, Lille, France.; Arveiler B; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France. Electronic address: benoit.arveiler@chu-bordeaux.fr.
Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE
Academic Journal
Eur J Hum Genet
Demidov, G, Laurie, S, Torella, A, Piluso, G, Scala, M, Morleo, M, Nigro, V, Graessner, H, Banka, S, Macaya, A, Pérez-Dueñas, B, Jackson, A, Stevanin, G, Agathe, J-M D S, Havlovicová, M, Horvath, R, Pinelli, M, Os, N J H V, Warrenburg, B P C V D, Denommé-Pichon, A-S, Savarese, M, Johari, M, Dallapiccola, B, Tartaglia, M, Pauly, M G, Sommer, A K, Haack, T B, Töpf, A, Didier, L, Fallerini, C, Renieri, A, Chinnery, P F, Benito, D N, Nascimento, A, Trimouille, A, Munell, F, Marcé-Grau, A, Rabah, B Y, Bonne, G, Vondel, L V D, Lohmann, K & Ossowski, S 2024, 'Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes', European Journal of Human Genetics, vol. 32, no. 8, pp. 998-1004. https://doi.org/10.1038/s41431-024-01637-4
Academic Journal
Galtier J; Service D'Hématologie et Thérapie Cellulaire, CHU de Bordeaux, Pessac, France.; Dimicoli-Salazar S; Service D'Hématologie et Thérapie Cellulaire, CHU de Bordeaux, Pessac, France.; Trimouille A; Département d'Anatomopathologie, CHU de Bordeaux, Bordeaux, France.; Maladies Rares: Génétique et Métabolisme (MRGM), U1211 INSERM, CHU Bordeaux, Bordeaux, France.; Lainey E; Hématologie Biologique, Hôpital Robert-Debré, APHP, Paris, France.; Revy P; Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Imagine Institute, Université de Paris, Paris, France.; Bidet A; Service d'Hématologie Biologique, CHU de Bordeaux, Pessac, France.; Vial Y; Génétique Moléculaire, Hôpital Robert-Debré, APHP, Paris, France.; Forcade E; Service D'Hématologie et Thérapie Cellulaire, CHU de Bordeaux, Pessac, France.; Negrier-Leibreich ML; Département d'Anatomopathologie, CHU de Bordeaux, Bordeaux, France.; Rivière E; Service de Médecine Interne et Maladie Infectieuse, CHU de Bordeaux, Pessac, France.; Tinat J; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; Le Meur N; Service de Génétique Médicale, CHU de Rouen, Rouen, France.; Ménard C; Département de Génétique, Hôpital Xavier Bichat-Claude Bernard, APHP, Paris, France.; Pigneux A; Service D'Hématologie et Thérapie Cellulaire, CHU de Bordeaux, Pessac, France.; Leguay T; Service D'Hématologie et Thérapie Cellulaire, CHU de Bordeaux, Pessac, France.; Dumas PY; Service D'Hématologie et Thérapie Cellulaire, CHU de Bordeaux, Pessac, France.; Ibrahima B; Département de Génétique, Hôpital Xavier Bichat-Claude Bernard, APHP, Paris, France.; Kannengiesser C; Département de Génétique, Hôpital Xavier Bichat-Claude Bernard, APHP, Paris, France.
Publisher: Taylor & Francis Country of Publication: United States NLM ID: 9007422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1029-2403 (Electronic) Linking ISSN: 10268022 NLM ISO Abbreviation: Leuk Lymphoma Subsets: MEDLINE
Academic Journal
Bulletin Monumental 78(1):156-157
Academic Journal
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In The Lancet Regional Health - Europe March 2025 50
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학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어