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'학술논문'
에서 검색결과 56건 | 목록
1~20
Academic Journal
Marcello Scala; Masashi Nishikawa; Hidenori Ito; Hidenori Tabata; Tayyaba Khan; Andrea Accogli; Laura Davids; Anna Ruiz; Pietro Chiurazzi; Gabriella Cericola; Björn Schulte; Kristin G Monaghan; Amber Begtrup; Annalaura Torella; Michele Pinelli; Anne Sophie Denommé-Pichon; Antonio Vitobello; Caroline Racine; Maria Margherita Mancardi; Courtney Kiss; Andrea Guerin; Wendy Wu; Elisabeth Gabau Vila; Bryan C Mak; Julian A Martinez-Agosto; Michael B Gorin; Bugrahan Duz; Yavuz Bayram; Claudia M B Carvalho; Jaime E Vengoechea; David Chitayat; Tiong Yang Tan; Bert Callewaert; Bernd Kruse; Lynne M Bird; Laurence Faivre; Marcella Zollino; Saskia Biskup; Gabrielle Brown; Manish J Butte; Esteban C Dell'Angelica; Naghmeh Dorrani; Emilie D Douine; Brent L Fogel; Irma Gutierrez; Alden Huang; Deborah Krakow; Hane Lee; Sandra K Loo; Martin G Martin; Julian A Martínez-Agosto; Elisabeth McGee; Stanley F Nelson; Shirley Nieves-Rodriguez; Christina G S Palmer; Jeanette C Papp; Neil H Parker; Genecee Renteria; Janet S Sinsheimer; Jijun Wan; Lee-kai Wang; Katherine Wesseling Perry; Vincenzo Nigro; Nicola Brunetti-Pierri; Giorgio Casari; Gerarda Cappuccio; Francesco Musacchia; Margherita Mutarelli; Diego Carrella; Giuseppina Vitiello; Valeria Capra; Giancarlo Parenti; Vincenzo Leuzzi; Angelo Selicorni; Silvia Maitz; Sandro Banfi; Mario Montomoli; Donatelli Milani; Corrado Romano; Albina Tummolo; Daniele De Brasi; Antonietta Coppola; Claudia Santoro; Angela Peron; Chiara Pantaleoni; Raffaele Castello; Stefano D’Arrigo; Pasquale Striano; Mariasavina Severino; Gregory Costain; Koh ichi Nagata
Brain
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
BRAIN
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Brain : a journal of neurology, vol 145, iss 9
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
BRAIN
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Brain : a journal of neurology, vol 145, iss 9
Academic Journal
Maia N; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; Ibarluzea N; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Misra-Isrie M; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Koboldt DC; Steve and Cindy Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Marques I; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; Soares G; Unidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal.; Santos R; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; Marcelis CLM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Keski-Filppula R; Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Guitart M; Paediatric Unit, ParcTaulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, I3PTUniversitat Autònoma de Barcelona, Sabadell, Spain.; Gabau Vila E; Paediatric Unit, ParcTaulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, I3PTUniversitat Autònoma de Barcelona, Sabadell, Spain.; Lehman A; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Hickey S; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Mori M; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Nationwide Children's Hospital, Columbus, Ohio, USA.; Terhal P; Division Laboratories, Pharmacy and Biomedical Genetics, Wilhelmina Children's Hospital, Utrecht, The Netherlands.; Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Chhouk BH; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Yeh RC; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Neil JE; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Abu-Libde B; Makassed Hospital, Jerusalem, Israel.; Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Elting MW; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Császár A; Paediatric Ward, Hospital of Zala County, Zalaegerszeg, Hungary.; Kárteszi J; Genetic Counselling, Hospital of Zala County, Zalaegerszeg, Hungary.; Bessenyei B; Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.; van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Jorge P; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; van Hagen JM; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Moraleda-Cibrián, M.; Arasanz-Armengol, M.; Delgadillo-Chilavert, V.; Sans-Capdevila, O.; Guitart-Feliubadaló, M.; Gabau-Vila, E.
Sleep Medicine. 40:e230-e230
Academic Journal
Revista de neurologia. 40
Academic Journal
Revista de neurologia. 40
Academic Journal
Revista de neurologia. 42
Academic Journal
C, Camprubí-Sánchez; E, Gabau-Vila; J, Artigas-Pallarés; M D, Coll-Sandiumenge; M, Guitart-Feliubadaló
Revista de neurologia. 42
Academic Journal
Revista de neurologia. 42
Academic Journal
Revista de neurologia. 41(11)
Academic Journal
J, Salvador Peral; S, García-Miñaur Rica; M R, Caballín Fernández; C, Mosquera Tenreiro; N, Baena Díez; E, García López; V, Castro Laiz; M, Guitart Feluibadaló; E, Gabau Vila; A, Plasència Taradach
Anales espanoles de pediatria. 48(6)
Academic Journal
Fergelot P; Department of Genetics, and INSERM U1211, University Hospital of Bordeaux, Bordeaux, France.; Van Belzen M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Van Gils J; Department of Genetics, University Hospital Center, Bordeaux, France.; Afenjar A; Unité de Génétique, Hospital Armand Trousseau-La Roche-Guyon, AP-HP, Paris, France.; Armour CM; Regional Genetics Unit, Children's Hospital of Eastern Ontario, Ottawa, Canada.; Arveiler B; Department of Genetics, and INSERM U1211, University Hospital of Bordeaux, Bordeaux, France.; Beets L; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.; Burglen L; Unité de Génétique, Hospital Armand Trousseau-La Roche-Guyon, AP-HP, Paris, France.; Busa T; Unité de Génétique Clinique, Hospital La Timone, AP-HM, Marseille, France.; Collet M; Département de Génétique, Hospital Necker-Enfants Malades, AP-HP, Paris, France.; Deforges J; Department of Genetics, University Hospital Center, Bordeaux, France.; de Vries BB; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Dominguez Garrido E; Center for Biomedical Research, Logrono-La Rioja, Spain.; Dorison N; Departement de Neuropédiatrie, Institut Jérôme Lejeune, Paris, France.; Dupont J; Serviço de Genética, Departamento de Pediatria, Hospital de Santa Maria, CHLN, Lisboa, Portugal.; Francannet C; Service de Génétique Médicale, CHU Estaing, Clermont-Ferrand, France.; Garciá-Minaúr S; Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain.; Gabau Vila E; Genetics Clinic, Hospital de Sabadell, Corporació Sanitària Parc Taulí, Sabadell, Spain.; Gebre-Medhin S; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Gener Querol B; Hospital de Cruces, Baracaldo, Spain.; Geneviève D; Service de Génétique Médicale, Hospital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France.; Gérard M; Service de Génétique, Hospital Clémenceau, CHU de Caen, Caen, France.; Gervasini CG; Department of Medical Genetics, University of Milan, Milan, Italy.; Goldenberg A; Unité de Génétique Clinique, Hospital Charles Nicolle, CHU Rouen, Rouen, France.; Josifova D; Department of Medical Genetics, Guy's and St Thomas Hospital, London, United Kingdom.; Lachlan K; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.; Maas S; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.; Maranda B; Laboratoire de Médecine Génétique, CHUQ Pavillon CHUL, Saint Foy, Canada.; Moilanen JS; PEDEGO Research Unit, and Medical Research Center Oulu, Department of Clinical Genetics, University of Oulu, Oulu University Hospital, Oulu, Finland.; Nordgren A; Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.; Parent P; Département de Pédiatrie et Génétique Médicale, Hospital Augustin Morvan, CHU Brest, Brest, France.; Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Reardon W; Our Lady's Hospital for Sick Children, Crumlin, Ireland.; Rio M; Unité de Génétique Clinique, Hospital La Timone, AP-HM, Marseille, France.; Roume J; Unité de Génétique Médicale, CHI Poissy, Saint Germain en Laye, France.; Shaw A; Department of Medical Genetics, Guy's and St Thomas Hospital, London, United Kingdom.; Smigiel R; Department of Paediatrics, Wroclaw Medical University, Wroclaw, Poland.; Sojo A; Hospital de Cruces, Baracaldo, Spain.; Solomon B; Division of Medical Genomics, Inova Translational Medical Institute, Falls Church.; Stembalska A; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.; Stumpel C; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Suarez F; Service de Génétique, Hospital Virgen de la Salud, Toledo, Spain.; Terhal P; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Thomas S; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom.; Touraine R; Service de Génétique Clinique et Moléculaire, CHU Hôpital-Nord, Saint-Etienne, France.; Verloes A; Département de Génétique, CHU Robert Debré, AP-HP, Paris, France.; Vincent-Delorme C; Service de Génétique Médicale, Hospital d'Arras, CHU de Lille, Arras, France.; Wincent J; Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.; Peters DJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Bartsch O; Institute of Human Genetics, University Medical Centre, Mainz, Germany.; Larizza L; Department of Health Sciences, University of Milan, Milan, Italy.; Lacombe D; Department of Genetics, and INSERM U1211, University Hospital of Bordeaux, Bordeaux, France.; Hennekam RC; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Anales de Pediatría. 56:476-477
Academic Journal
Trujillo-Quintero JP; Unitat de Genètica Clínica, Servei de Medicina Pediàtrica, Parc Taulí Hospital Universitari, Sabadell, Barcelona, Spain. Electronic address: jptrujillo@tauli.cat.; Gabau Vila E; Unitat de Genètica Clínica, Servei de Medicina Pediàtrica, Parc Taulí Hospital Universitari, Sabadell, Barcelona, Spain.; Larrañaga Moreira JM; Unidad de Cardiopatías Familiares, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario A Coruña (CHUAC), Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Galicia, Spain.; Ruiz Nel Lo A; Laboratorio de Genética de la UDIAT-CD, Parc Taulí Hospital Universitari, Sabadell, Barcelona, Spain.; Monserrat L; Departamento Clínico, Health in Code, A Coruña, Galicia, Spain.; Barriales-Villa R; Unidad de Cardiopatías Familiares, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario A Coruña (CHUAC), Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Galicia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain.
Publisher: Elsevier Doyma Country of Publication: Spain NLM ID: 101587954 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1885-5857 (Electronic) Linking ISSN: 18855857 NLM ISO Abbreviation: Rev Esp Cardiol (Engl Ed) Subsets: MEDLINE
Academic Journal
M, Guitart Feliubadalo; J, Artigas Pallarés; C, Fuster Marqués; E, Gabau Vila; I, Lorente Hurtado; J, Argemí Renom
Anales espanoles de pediatria. 29(5)
Academic Journal
Academic Journal
Artigas-Pallarés J; Centre Medic Psyncron, Sabadell, Barcelona, Spain. 7280jap@comb.cat; Guitart M; Gabau-Vila E
Publisher: IMR Press Country of Publication: Singapore NLM ID: 7706841 Publication Model: Print Cited Medium: Internet ISSN: 1576-6578 (Electronic) Linking ISSN: 02100010 NLM ISO Abbreviation: Rev Neurol Subsets: MEDLINE
Report
Publisher: IMR Press Country of Publication: Singapore NLM ID: 7706841 Publication Model: Print Cited Medium: Internet ISSN: 1576-6578 (Electronic) Linking ISSN: 02100010 NLM ISO Abbreviation: Rev Neurol Subsets: MEDLINE
Academic Journal
Salvador Peral J; Registro de Defectos Congénitos de Barcelona (REDCB), Servicio de Información Sanitaria, Instituto Municipal de la Salud de Barcelona.; García-Miñaur Rica S; Caballín Fernández MR; Mosquera Tenreiro C; Baena Díez N; García López E; Castro Laiz V; Guitart Feluibadaló M; Gabau Vila E; Plasència Taradach A
Publisher: Doyma Country of Publication: Spain NLM ID: 0420463 Publication Model: Print Cited Medium: Print ISSN: 0302-4342 (Print) Linking ISSN: 03024342 NLM ISO Abbreviation: An Esp Pediatr Subsets: MEDLINE
Academic Journal
Guitart-Feliubadaló M; UDIAT-Centre Diagnostic, Corporacio Sanitaria, Sabadell, Espana. mguitart@cspt.es; Brunet-Vega A; Villatoro-Gómez S; Baena-Díez N; Gabau-Vila E
Publisher: IMR Press Country of Publication: Singapore NLM ID: 7706841 Publication Model: Print Cited Medium: Internet ISSN: 1576-6578 (Electronic) Linking ISSN: 02100010 NLM ISO Abbreviation: Rev Neurol Subsets: MEDLINE
Academic Journal
Artigas-Pallarés J; Hospital de Sabadell, Corporacio Sanitaria Parc Tauli, 08208 Sabadell, Espana. 7280jap@comb.es; Gabau-Vila E; Guitart-Feliubadaló M
Publisher: IMR Press Country of Publication: Singapore NLM ID: 7706841 Publication Model: Print Cited Medium: Internet ISSN: 1576-6578 (Electronic) Linking ISSN: 02100010 NLM ISO Abbreviation: Rev Neurol Subsets: MEDLINE
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[검색어] Gabau Vila, E.
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