학술논문
'학술논문'
에서 검색결과 284건 | 목록
1~10
Periodical
Obesity, Fitness & Wellness Week. April 9, 2016, 1057
Academic Journal
Adam Jackson; Sheng-Jia Lin; Elizabeth A. Jones; Kate E. Chandler; David Orr; Celia Moss; Zahra Haider; Gavin Ryan; Simon Holden; Mike Harrison; Nigel Burrows; Wendy D. Jones; Mary Loveless; Cassidy Petree; Helen Stewart; Karen Low; Deirdre Donnelly; Simon Lovell; Konstantina Drosou; Gaurav K. Varshney; Siddharth Banka; J.C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C.R. Boustred; H. Brittain; M.A. Brown; M.J. Caulfield; G.C. Chan; A. Giess; J.N. Griffin; A. Hamblin; S. Henderson; T.J.P. Hubbard; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; P. O‘Donovan; C.A. Odhams; C. Patch; D. Perez-Gil; M.B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; S.C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A.L. Taylor Tavares; E.R.A. Thomas; S.R. Thompson; A. Tucci; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki; Olaf Riess; Tobias B. Haack; Holm Graessner; Birte Zurek; Kornelia Ellwanger; Stephan Ossowski; German Demidov; Marc Sturm; Julia M. Schulze-Hentrich; Rebecca Schüle; Christoph Kessler; Melanie Wayand; Matthis Synofzik; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Nicoline Hoogerbrugge; Alexander Hoischen; Peter A.C. ’t Hoen; Lisenka E.L.M. Vissers; Christian Gilissen; Wouter Steyaert; Karolis Sablauskas; Richarda M. de Voer; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Anthony J. Brookes; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Ana Töpf; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton-Smith; Elizabeth Alexander; Laurence Faivre; Christel Thauvin; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Sergi Beltran; Ivo Glynne Gut; Steven Laurie; Davide Piscia; Leslie Matalonga; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez-Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Gulcin Gumus; Virginie Bros-Facer; Ana Rath; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Giovanni Stevanin; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot-Noel; Anna Heinzmann; Giulia Coarelli; Gisèle Bonne; Teresinha Evangelista; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek, Jr.; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Dylan Spalding; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Vincent Timmerman; Jonathan Baets; Liedewei Van de Vondel; Danique Beijer; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira; Fátima Carneiro; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs-Prins; Sebastian Köhler; Alison Metcalfe; Alain Verloes; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé-Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski-Feder; Andreas Laner; Verena Steinke-Lange; Evelin Schröck; Andreas Rump
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Academic Journal
Di Feo MF; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Folkhälsan Research Center, Helsinki, Uusimaa, Finland.; Oghabian A; Folkhälsan Research Center, Helsinki, Uusimaa, Finland.; Nippala E; Folkhälsan Research Center, Helsinki, Uusimaa, Finland.; Gautel M; Randall Division of Cell and Molecular Biophysics and Cardiovascular Division, King's College London BHF Centre of Research Excellence, London, UK.; Jungbluth H; Randall Division of Cell and Molecular Biophysics and Cardiovascular Division, King's College London BHF Centre of Research Excellence, London, UK.; Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's and St Thomas' Hospitals NHS Trust, London, UK.; Forzano F; Clinical Genetics Department, Guy's and St Thomas NHS Foundation Trust, London, SE1 9RT, UK.; Malfatti E; Université Paris Est Créteil, INSERM, U955, IMRB, and Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, Créteil, France.; Castiglioni C; Clinica MEDS, Santiago de Chile, Chile.; Krey I; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, 4275, Germany.; Gomez Andres D; Child Neurology Unit. Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Brady AF; North West Thames Regional Service, Northwick Park and St. Mark's Hospitals, Harrow, London, UK.; Iascone M; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy.; Cereda A; Clinical Genetics Service, Pediatria 1-ASST Papa Giovanni XXIII, Bergamo, Italy.; Pezzani L; Clinical Genetics Service, Pediatria 1-ASST Papa Giovanni XXIII, Bergamo, Italy.; Natera De Benito D; Neuropaediatrics Department, Hospital Sant Joan De Déu, Institut De Recerca Sant Joan De Déu, Barcelona, 08950, Spain.; Nascimiento Osorio A; Neuropaediatrics Department, Hospital Sant Joan De Déu, Institut De Recerca Sant Joan De Déu, Barcelona, 08950, Spain.; Estévez Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan De Déu, Barcelona, Spain.; Kurbatov SA; Voronezh NN Burdenko State Medical University, Voronezh, 394036, Russia.; Saratov State Medical University, Saratov, 410012, Russia.; Attie-Bitach T; Unité D'embryofoetopathologie, Service D'histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.; Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Kochi, Kerala, India.; Ryan E; GeneDx, Gaithersburg, Maryland, USA.; Morrow M; GeneDx, Gaithersburg, Maryland, USA.; Gorokhova S; Marseille Medical Genetics, Aix Marseille Université, Faculté Des Sciences Médicales Et Paramédicales, Marseille, France.; Chabrol B; Reference Center for Inherited Metabolic Diseases, Marseille University Hospital, Marseille, France.; Sinisalo J; Helsinki University Central Hospital, Helsinki, Finland.; Tolppanen H; Helsinki University Central Hospital, Helsinki, Finland.; Tolva J; Transplantation Laboratory, Department of Pathology, University of Helsinki, Helsinki, Finland.; Munell F; Unitat De Malalties Neuromusculars Pediàtriques, Hospital Universitari Vall D'Hebron, Barcelona, Spain.; Camacho Soriano J; Histology Department, Vall D'Hebron University Hospital, Barcelona, Spain.; Sanchez Duran MA; Maternal Fetal Medicine Unit, Department of Obstetrics, Universitat Autònoma de Barcelona, Hospital Vall D'Hebron, Barcelona, Spain.; Johari M; Folkhälsan Research Center, Helsinki, Uusimaa, Finland.; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.; Tajsharghi H; Division of Biomedicine, School of Health Sciences, University of Skovde, Skovde, Sweden.; Hackman P; Folkhälsan Research Center, Helsinki, Uusimaa, Finland.; Udd B; Folkhälsan Research Center, Helsinki, Uusimaa, Finland.; Department of Musculoskeletal Diseases, Tampere University Hospital, Tampere, Pirkanmaa, Finland.; Savarese M; Folkhälsan Research Center, Helsinki, Uusimaa, Finland.
Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE
Academic Journal
Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. Electronic address: daniel.natera@sjd.es.; Pugliese A; IRCCS Centro Neurolesi 'Bonino-Pulejo', Neurology Unit, Messina, Italy.; Polavarapu K; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Guergueltcheva V; Clinic of Neurology, University Hospital Sofiamed, Sofia University St. Kliment Ohridski, Sofia, Bulgaria.; Tournev I; Department of Neurology, University Hospital 'Alexandrovska', Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.; Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria; Department of Medical Chemistry and Biochemistry, Sofia Medical University, Sofia, Bulgaria.; Afonso Ribeiro J; Neurology Department, Coimbra University Hospital Centre, Coimbra, Portugal.; Fernández-Mayoralas DM; Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.; Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Martorell L; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Estévez-Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Laboratory of Neurogenetics and Molecular Medicine-IPER, Sant Joan de Deu Research Institute, Barcelona, Spain.; Matalonga L; Centro Nacional de Análisis Genómico, Barcelona, Spain.; Laurie S; Centro Nacional de Análisis Genómico, Barcelona, Spain.; Jou C; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain.; Lau J; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Thompson R; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Shen X; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota.; Engel AG; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota.; Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Lochmüller H; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Laboratory of Neurogenetics and Molecular Medicine-IPER, Sant Joan de Deu Research Institute, Barcelona, Spain; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Selcen D; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota. Electronic address: selcen.duygu@mayo.edu.
Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE
Academic Journal
Villafuerte B; Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital Research Institute (IdiPAZ), La Paz University Hospital, Madrid, Spain.; Carrasco-López C; 'Sols-Morreale' Biomedical Research Institute, Higher Council for Scientific Research (CSIC), Autonomous University of Madrid, Ciberonc, Carlos III Health Institute (ISCIII), Madrid, Spain.; Herranz A; Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital Research Institute (IdiPAZ), La Paz University Hospital, Madrid, Spain.; Garzón L; Pediatric Endocrinology Unit, Pediatrics Department, 12 de Octubre University Hospital, Madrid, Spain.; Simón R; Pediatric Neurology Unit, Pediatrics Department, 12 de Octubre University Hospital, Madrid, Spain.; Natera-de-Benito D; Neuromuscular Diseases Unit, Pediatric Neurology, Sant Joan de Déu Hospital, Barcelona, Spain.; Alikhani P; Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital Research Institute (IdiPAZ), La Paz University Hospital, Madrid, Spain.; Tenorio J; Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, Center for Biomedical Research on the Rare Diseases Network (CIBERER), Carlos III Health Institute (ISCIII), ITHACA-European Reference Network, La Paz University Hospital, Madrid, Spain.; García-Santiago F; Cytogenetics Section, Institute for Medical and Molecular Genetics (INGEMM), Center for Biomedical Research on the Rare Diseases Network (CIBERER), Carlos III Health Institute (ISCIII), La Paz University Hospital, Madrid, Spain.; Solis M; Bioinformatics Section, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, Center for Biomedical Research on the Rare Diseases Network (CIBERER), Carlos III Health Institute (ISCIII), La Paz University Hospital, Madrid, Spain.; Del-Pozo Á; Bioinformatics Section, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, Center for Biomedical Research on the Rare Diseases Network (CIBERER), Carlos III Health Institute (ISCIII), La Paz University Hospital, Madrid, Spain.; Lapunzina P; Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, Center for Biomedical Research on the Rare Diseases Network (CIBERER), Carlos III Health Institute (ISCIII), ITHACA-European Reference Network, La Paz University Hospital, Madrid, Spain.; Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology, Sant Joan de Déu Hospital, Barcelona, Spain.; Santisteban P; 'Sols-Morreale' Biomedical Research Institute, Higher Council for Scientific Research (CSIC), Autonomous University of Madrid, Ciberonc, Carlos III Health Institute (ISCIII), Madrid, Spain.; Moreno JC; Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital Research Institute (IdiPAZ), La Paz University Hospital, Madrid, Spain.; Unit 735, Center for Biomedical Research on the Rare Diseases Network (CIBERER), Carlos III Health Institute (ISCIII), Madrid, Spain.
Publisher: Mary Ann Liebert Publishers Country of Publication: United States NLM ID: 9104317 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-9077 (Electronic) Linking ISSN: 10507256 NLM ISO Abbreviation: Thyroid Subsets: MEDLINE
Academic Journal
Demidov, G.; Graessner, H.; Haack, T.B.; Ossowski, S.; Laurie, S.; Torella, A.; Piluso, G.; Morleo, M.; Nigro, V.; Pinelli, M.; Scala, M.; Banka, S.; Jackson, A.; Pauly, M.G.; Lohmann, K.; Macaya, A.; Pérez-Dueñas, B.; Munell, F.; Marcé-Grau, A.; Stevanin, G.; de Sainte Agathe, J.-M.; Havlovicová, M.; Horvath, R.; Chinnery, P.F.; van Os, N.J.H.; van de Warrenburg, B.P.C.; Denommé-Pichon, A.-S.; Savarese, M.; Johari, M.; Dallapiccola, B.; Tartaglia, M.; Sommer, A.K.; Töpf, A.; Didier, L.; Fallerini, C.; Renieri, A.; Natera-de Benito, D.; Nascimento, A.; Trimouille, A.; Rabah, B.Y.; Bonne, G.; Van de Vondel, L.
In: European Journal of Human Genetics . (European Journal of Human Genetics, August 2024, 32(8):998-1004)
Academic Journal
Cascajo-Almenara MV; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Juliá-Palacios N; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; Urreizti R; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; Sánchez-Cuesta A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Fernández-Ayala DM; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; García-Díaz E; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013, Sevilla, Spain.; Oliva C; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; O Callaghan MDM; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; Paredes-Fuentes AJ; Division of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, 08028, Barcelona, Spain.; Moreno-Lozano PJ; Internal Medicine Department, Clinic Hospital and University of Barcelona, 08036, Barcelona, Spain.; Muchart J; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; Nascimento A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; Ortez CI; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; Natera-de Benito D; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; Pineda M; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; Rivera N; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; Fortuna TR; Department of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA.; Rajan DS; Department of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA.; Navas P; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013, Sevilla, Spain.; Salviati L; Clinical Genetics Unit, Department of Women and Children's Health, Padua University, 35128, Padua, Italy.; Palau F; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; Division of Pediatrics, Faculty of Medicine and Health Sciences, University of Barcelona, 08036, Barcelona, Spain.; Yubero D; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; García-Cazorla A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; Pandey UB; Department of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA. udai@pitt.edu.; Santos-Ocaña C; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. csanoca@upo.es.; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013, Sevilla, Spain. csanoca@upo.es.; Artuch R; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. Rafael.artuch@sjd.es.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain. Rafael.artuch@sjd.es.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Cao X; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium.; Lake M; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium.; Van der Hoeven G; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium.; Claes Z; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium.; Del Pino García J; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium.; Lemaire S; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium.; Greiner EC; Department of Biochemistry and Cell Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, USA.; Dartmouth Cancer Center, Lebanon, NH, USA.; Karamanou S; Laboratory of Molecular Bacteriology, KU Leuven Department of Microbiology and Immunology, University of Leuven, Leuven, Belgium.; Van Eynde A; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium.; Kettenbach AN; Department of Biochemistry and Cell Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, USA.; Dartmouth Cancer Center, Lebanon, NH, USA.; Natera de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Deu, Barcelona, Spain.; Carrera García L; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Deu, Barcelona, Spain.; Hernando Davalillo C; Department of Genetic Medicine-IPER, Hospital Sant Joan de Deu, Barcelona, Spain.; Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Deu, Barcelona, Spain.; Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Deu, Barcelona, Spain.; Urreizti R; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Deu, Hospital Sant Joan de Deu, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Bollen M; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium. Mathieu.Bollen@kuleuven.be.
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Academic Journal
Armijo Gómez JA; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Fernandez-Garcia MA; Neuromuscular Unit, Hospital La Paz, Madrid, Spain.; Camacho A; Division of Pediatric Neurology, Department of Neurology, Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, Madrid, Spain.; Liz M; Epilepsy Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Lafuente-Hidalgo M; Department of Pediatrics, Hospital Miguel Servet, Zaragoza, Spain.; Toledo Bravo-de Laguna L; Department of Pediatrics, Hospital Materno-Infantil, Las Palmas de Gran Canaria, Spain.; Estévez-Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Carrera-García L; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Expósito-Escudero J; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Domínguez-Carral J; Epilepsy Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE
Academic Journal
Martínez Olorón P; Unidad de Cardiología Infantil, Hospital Universtario de Navarra, 31008 Pamplona, Spain.; Departamento de Pediatría, Facultad de Ciencias de la Salud, Universidad Pública de Navarra, 31006 Pamplona, Spain.; Alegría I; Unidad de Cardiología Infantil, Hospital Universtario de Navarra, 31008 Pamplona, Spain.; Cesar S; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain.; Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain.; Del Olmo B; Institut d'Investigació Biomèdiques de Girona (IDIBGI-CERCA), 17190 Salt, Spain.; Centro Investigación Biomédica en Red-Cardiovascular (CIBERCV), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Martínez-Barrios E; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain.; Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain.; Carrera-García L; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Investigación Aplicada en Enfermedades Neuromusculares Neurociències, Institut de Recerca Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain.; Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Investigación Aplicada en Enfermedades Neuromusculares Neurociències, Institut de Recerca Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain.; Instituto Nacional de Investigación Biomédica de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Investigación Aplicada en Enfermedades Neuromusculares Neurociències, Institut de Recerca Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain.; Instituto Nacional de Investigación Biomédica de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Campuzano O; Institut d'Investigació Biomèdiques de Girona (IDIBGI-CERCA), 17190 Salt, Spain.; Centro Investigación Biomédica en Red-Cardiovascular (CIBERCV), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Medical Science Department, School of Medicine, Universitat de Girona, 17003 Girona, Spain.; Sarquella-Brugada G; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain.; Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain.; Institut d'Investigació Biomèdiques de Girona (IDIBGI-CERCA), 17190 Salt, Spain.; Pediatrics Department, School of Medicine, Universitat de Barcelona, 08007 Barcelona, Spain.
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
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[검색어] Natera-de Benito, D.
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