Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Brea Fernández, AJ."'
Autor:
Rodríguez López, AM., Fernández Barral, R., Benítez Canosa, MC., Camino Castiñeira, MJ., Brea Fernández, AJ.
Publikováno v:
DIGITUM. Depósito Digital Institucional de la Universidad de Murcia
instname
instname
Objetivos: Detectar Síndrome de Burnout entre los DUE de Reanimación; evaluar calidad de vida y correlacionar carga de trabajo, S. Burnout y calidad de vida. Métodos: Estudio descriptivo y transversal. Muestra: plantilla de DUE de Reanimación CHU
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3c776b438b110b29c6209de43dde9be8
http://hdl.handle.net/10201/24328
http://hdl.handle.net/10201/24328
Autor:
Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway. gunnar.houge@helse-bergen.no., Bratland E; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Aukrust I; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Žukauskaitė G; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Sansovic I; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology, Childrens' Hospital Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia., Brea-Fernández AJ; Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, CIBERER), Santiago de Compostela, Spain., Mayer K; Center for Human Genetics and Laboratory Diagnostics, MVZ Martinsried GmbH, Martinsried, Germany., Paakkola T; Nordlab Wellbeing Service Group, Genetics Laboratory, Oulu, Finland., McKenna C; Northern Ireland Regional Molecular Diagnostic Service, Belfast, Northern Ireland., Wright W; Northern Ireland Regional Molecular Diagnostic Service, Belfast, Northern Ireland., Markovic MK; Center for Applied and Forensic Molecular Genetics, Faculty of Biology, University of Belgrade, Belgrade, Serbia., Lildballe DL; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark., Konecny M; Laboratory of Genomic Medicine, GHC GENETICS SK, Bratislava, Slovakia.; Department of Biology, Institute of Biology and Biotechnology, Faculty of Natural Sciences, University of ss. Cyril and Methodius in Trnava, Trnava, Slovakia., Smol T; Institut de Genetique Medicale-CHU Lille, Lille, France., Alhopuro P; HUS Diagnostic Center, Laboratory of Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Gouttenoire EA; MEDISYN Genetics, Chemin d'Entre-Bois 21, Lausanne, Switzerland., Obeid K; Molecular Diagnostics, Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica' and Genome Center Bulgaria, Sofia, Bulgaria., Jankovic M; Neurology Clinic UCCS, Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Lubieniecka JM; Humangenetik, Ruhr-Universität Bochum, Bochum, Germany., Stojiljkovic M; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia., Buisine MP; Molecular Oncogenetics, Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France.; Univ. Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277, CANTHER, Lille, France., Haukanes BI; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Lorans M; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Roomere H; Department of laboratory genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Petit FM; Department of Oncopharmacology, Centre Antoine Lacassagne, Nice, France., Haanpää MK; Department of Genomics, Turku University Hospital, Turku, Finland., Beneteau C; CHU Bordeaux, Service de Génétique Médicale, F-33000, Bordeaux, France., Pérez B; Genetics Department of CEDEM, Universidad Autónoma de Madrid, Madrid, Spain., Plaseska-Karanfilska D; Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, North Macedonia., Rath M; Institute for Molecular Medicine, MSH Medical School Hamburg, Hamburg, Germany.; Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany., Fuhrmann N; Institute of Human Genetics, University of Cologne, Cologne, Germany., Ferreira BI; GENELAB by ABC, Faro, Portugal.; Faculty of Medicine and Biomedical Sciences, University of Algarve, Campus de Gambelas, Faro, Portugal., Stephanou C; Molecular Genetics Thalassemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Sjursen W; Department of Medical Genetics, St Olavs Hospital, Trondheim, Norway., Maver A; Clinical Institute of Genomic Medicine, Ljubljana, Slovenia., Rouzier C; Department of Medical Genetics, National Centre for Mitocondrial Diseases, CHU de NICE, Université Côte d'Azur, Nice, France.; CNRS, INSERM, IRCAN, Université Côte d'Azur, Nice, France., Chirita-Emandi A; Department of Microscopic Morphology Genetics Discipline, Center of Genomic Medicine, 'Victor Babes' University of Medicine and Pharmacy Timisoara, Timisoara, Romania., Gonçalves J; Human Genetics Department, National Institute of Health Dr Ricardo Jorge, Lisbon, Portugal., Kuek WCD; Molecular Diagnosis Centre, Department of Laboratory Medicine, National University Hospital, Kent Ridge, Singapore., Broly M; Laboratory of Rare and Autoinflammatory Genetic Diseases, Department of Genetics-LBM, Montpellier University Hospital, Montpellier, France., Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Thong MK; Genetics and Metabolism Unit, Department of Pediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Tae SK; Genetics and Metabolism Unit, Department of Pediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Hyblova M; Department of Genetics, Medirex, Bratislava, Slovakia., den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Laner A; Medizinisch Genetisches Zentrum (MGZ) München, Munich, Germany.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul; Vol. 32 (7), pp. 858-863. Date of Electronic Publication: 2024 May 22.
Autor:
Kassabian B; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Neurology Unit, Department of Neurosciences, University of Padua, Padua, Italy., Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Gardella E; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Aledo-Serrano A; Epilepsy and Neurogenetics Unit, Vithas la Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain., Ananth AL; Division of Pediatric Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA., Brea-Fernández AJ; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Grupo de Genética, Fundación Pública Galega de Medicina Xenómica, Instituto de Investigación Biomédica de Santiago (IDIS), Santiago de Compostela, Spain., Caumes R; CHU de Lille, Clinique de Génétique, Lille, France., Chatron N; Service de Genetique, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Centre National de la recherche scientifique (CNRS) Unité mixte de recherche (UMR) 5261- L'Institut national de la santé et de la recherche médicale (INSERM) U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France., Dainelli A; Neuroscience Department, Meyer Children's Hospital IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), member of the European Reference Network EpiCARE, Florence, Italy., De Wachter M; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Denommé-Pichon AS; Functional Unit for Diagnostic Innovation in Rare Diseases, Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement (FHU-TRANSLAD), Dijon Bourgogne University Hospital, Dijon, France.; L'Institut national de la santé et de la recherche médicale (INSERM) Unité mixte de recherche (UMR) 1231, Génétique des Anomalies du Développement (GAD), Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement (FHU-TRANSLAD), University of Burgundy, Dijon, France., Dye TJ; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Fazzi E; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; Unit of Child Neurology and Psychiatry, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili of Brescia, Brescia, Italy., Felt R; Department of Neurology, Kaiser Permanente Bellevue Medical Center, Bellevue, Washington, USA., Fernández-Jaén A; Department of Pediatric Neurology, Neurogenetics Section, Hospital Universitario Quirónsalud, Madrid, Spain.; Facultad de Medicina, Universidad Europea, Madrid, Spain., Fernández-Prieto M; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Grupo de Genética, Fundación Pública Galega de Medicina Xenómica, Instituto de Investigación Biomédica de Santiago (IDIS), Santiago de Compostela, Spain., Gantz E; Division of Pediatric Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA., Gasperowicz P; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Gil-Nagel A; Neurology Department, Epilepsy Program, Ruber Internacional Hospital, Madrid, Spain., Gómez-Andrés D; Child Neurology Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute, Barcelona, Spain., Greiner HM; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), member of the European Reference Network EpiCARE, Florence, Italy., Haanpää MK; Department of Genomics, Turku University Hospital, Turku, Finland., Helin M; Department of Pediatric Neurology, Turku University Hospital, Turku, Finland., Hoyer J; Friedrich-Alexander-Universität Erlangen Nürnberg, Institute of Human Genetics, Erlangen, Germany., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Kallish S; Division of Translational Medicine and Human Genetics, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Karkare SN; Division of Pediatric Neurology, Department of Pediatrics, Cohen Children's Medical Center, New Hyde Park, New York, USA., Khan A; Department of Zoology, Faculty of Biological Sciences, University of Lakki Marwat, Lakki Marwat, Pakistan.; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Kleinendorst L; Department of Human Genetics, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands., Koch J; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Kothare SV; Division of Pediatric Neurology, Department of Pediatrics, Cohen Children's Medical Center, New Hyde Park, New York, USA., Koudijs SM; Department of Neurology, Erasmus Medical Center (MC) Sophia Children's Hospital, Rotterdam, the Netherlands.; Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Rotterdam, Erasmus Medical Center (ENCORE)-GRIN Expertise Center, Rotterdam, the Netherlands., Lagae L; Department of Development and Regeneration, Section Paediatric Neurology, member of the European Reference Network EpiCARE, University Hospitals Leuven, Leuven, Belgium., Lakeman P; Department of Human Genetics, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands., Leppig KA; Genetic Services, Kaiser Permanente of Washington, Seattle, Washington, USA., Lesca G; Service de Genetique, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Centre National de la recherche scientifique (CNRS) Unité mixte de recherche (UMR) 5261- L'Institut national de la santé et de la recherche médicale (INSERM) U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France., Lopergolo D; Department of Medicine, Surgery, and Neurosciences, University of Siena, Siena, Italy.; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Stella Maris Foundation, Pisa, Italy., Lusk L; Division of Neurology, Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Mackenzie A; Research Institute, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), member of the European Reference Network EpiCARE, Florence, Italy., Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, New York, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Quelin C; Department of Medical Genetics, CHU de Rennes, Rennes, France., Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA., Rheims S; Department of Functional Neurology and Epileptology, member of the European Reference Network EpiCARE, Hospices Civils de Lyon and Lyon 1 University, Lyon, France., Rodríguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.; Grupo de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Rossi A; Unit of Child Neurology and Psychiatry, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili of Brescia, Brescia, Italy., Santorelli F; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Stella Maris Foundation, Pisa, Italy., Seinfeld S; Department of Pediatric Neurology, Neuroscience Center, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Sell E; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Stephenson D; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Szczaluba K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Center of Excellence for Rare and Undiagnosed Diseases, Medical University of Warsaw, Warsaw, Poland., Trinka E; Department of Neurology, Neurointensive Care and Neurorehabilitation, Christian Doppler University Hospital, member of the European Reference Network EpiCARE, Paracelsus Medical University, Center for Cognitive Neuroscience, Salzburg, Austria.; Neuroscience Institute, Christian Doppler University Hospital, member of the European Reference Network EpiCARE, Paracelsus Medical University, Center for Cognitive Neuroscience, Salzburg, Austria., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., van Haelst MM; Department of Human Genetics, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands., Veenma DCM; Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Rotterdam, Erasmus Medical Center (ENCORE)-GRIN Expertise Center, Rotterdam, the Netherlands.; Department of Pediatrics, Erasmus Medical Center (MC)-Sophia Hospital, Rotterdam, the Netherlands., Weber S; Service de Génétique, Centre Hospitalier Universitaire (CHU) de Caen-Normandie, Caen, France.; Service de Neurologie, Centre Hospitalier Universitaire (CHU) de Caen-Normandie, Caen, France., Weckhuysen S; Applied and Translational Neurogenomics Group, Vlaams Instituut voor Biotechnologie (VIB) Center for Molecular Neurology, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Zacher P; Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Epilepsia [Epilepsia] 2024 Apr; Vol. 65 (4), pp. 1029-1045. Date of Electronic Publication: 2024 Feb 29.
Autor:
Brea-Fernández AJ; Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII), Santiago de Compostela, Spain., Souto-Trinei FA; Biomimetic Membrane Chemistry (BioMemChem) Group, CICA - Centro Interdisciplinar de Química e Bioloxía, Universidade da Coruña, A Coruña, Spain., Iglesias E; Biomimetic Membrane Chemistry (BioMemChem) Group, CICA - Centro Interdisciplinar de Química e Bioloxía, Universidade da Coruña, A Coruña, Spain., Caamaño P; Fundación Pública Galega de Medicina Xenómica (FPGMX), Santiago de Compostela, Spain., Rodríguez Sánchez B; Complexo Hospitalario Universitario de A Coruña, Unidad de Genética Clínica Traslacional, Hospital Materno-Infantil Teresa Herrera, A Coruña, Spain., Gómez Lado C; Complexo Hospitalario Universitario de Santiago de Compostela, Unidad de Neurología Pediátrica, Departamento de Pediatría, Santiago de Compostela, Spain., Eiris J; Complexo Hospitalario Universitario de Santiago de Compostela, Unidad de Neurología Pediátrica, Departamento de Pediatría, Santiago de Compostela, Spain., Fernández-Prieto M; Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII), Santiago de Compostela, Spain.; Genetics Group, GC05, Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain.; Genomics and Bioinformatics Group, Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Universidade de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII), Santiago de Compostela, Spain., Barros F; Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII), Santiago de Compostela, Spain.; Fundación Pública Galega de Medicina Xenómica (FPGMX), Santiago de Compostela, Spain., Brea RJ; Biomimetic Membrane Chemistry (BioMemChem) Group, CICA - Centro Interdisciplinar de Química e Bioloxía, Universidade da Coruña, A Coruña, Spain., Carracedo Á; Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII), Santiago de Compostela, Spain.; Fundación Pública Galega de Medicina Xenómica (FPGMX), Santiago de Compostela, Spain.; Genetics Group, GC05, Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain.; Genomics and Bioinformatics Group, Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Universidade de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII), Santiago de Compostela, Spain.
Publikováno v:
Cytogenetic and genome research [Cytogenet Genome Res] 2023; Vol. 163 (5-6), pp. 301-306. Date of Electronic Publication: 2023 Dec 06.
Autor:
Brea-Fernández AJ; Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain. a.brea@usc.es., Álvarez-Barona M; Grupo de Medicina Xenómica, Fundación Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Amigo J; Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain.; Fundación Pública Galega de Medicina Xenómica (FPGMX), Santiago de Compostela, Spain., Tubío-Fungueiriño M; Grupo de Medicina Xenómica, Fundación Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Genomics and Bioinformatics Group, Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Caamaño P; Fundación Pública Galega de Medicina Xenómica (FPGMX), Santiago de Compostela, Spain., Fernández-Prieto M; Genetics Group, GC05, Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain.; Grupo de Medicina Xenómica, Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Universidade de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain., Barros F; Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain.; Grupo de Medicina Xenómica, Fundación Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Fundación Pública Galega de Medicina Xenómica (FPGMX), Santiago de Compostela, Spain., De Rubeis S; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Buxbaum J; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Carracedo Á; Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain.; Grupo de Medicina Xenómica, Fundación Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Fundación Pública Galega de Medicina Xenómica (FPGMX), Santiago de Compostela, Spain.; Genomics and Bioinformatics Group, Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Aug; Vol. 30 (8), pp. 938-945. Date of Electronic Publication: 2022 Mar 23.
Autor:
Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Teinert J; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Child Neurology and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Behne R; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Wimmer M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., D'Amore A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy., Eberhardt K; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Brechmann B; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Ziegler M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Jensen DM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Nagabhyrava P; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Geisel G; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Carmody E; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Shamshad U; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Dies KA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Yuskaitis CJ; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Salussolia CL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Ebrahimi-Fakhari D; Pediatric Neurology, Saarland University Medical Center, Homburg/Saar, Germany.; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Pearson TS; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA., Saffari A; Division of Child Neurology and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Ziegler A; Division of Child Neurology and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Kölker S; Division of Child Neurology and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Volkmann J; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Wiesener A; Institute of Human Genetics, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany., Bearden DR; Child Neurology, University of Rochester School of Medicine, Rochester, NY, USA., Lakhani S; Center for Neurogenetics, Weill Cornell Medical College, New York, NY, USA., Segal D; Center for Neurogenetics, Weill Cornell Medical College, New York, NY, USA.; Division of Child Neurology, Weill Cornell Medicine, New York City, NY, USA., Udwadia-Hegde A; Department of Pediatric Neurology, Jaslok Hospital and Research Centre, Mumbai, India., Martinuzzi A; Scientific Institute, IRCCS E. Medea, Unità Operativa Conegliano, Treviso, Italy., Hirst J; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK., Perlman S; Division of Neurology, Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA., Takiyama Y; Department of Neurology, University of Yamanashi, Yamanashi, Japan., Xiromerisiou G; Department of Neurology, Papageorgiou Hospital, Thessaloniki, Greece., Vill K; Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany., Walker WO; Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, USA., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Dubey Gupta R; Pediatric Neurology, Medanta Hospital, Indore, India., Dahl N; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Aksoy A; Pediatric Neurology, Dr. Sami Ulus Hospital, Ankara, Turkey., Verhelst H; Pediatric Neurology, Ghent University Hospital, Ghent, Belgium., Delgado MR; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA., Kremlikova Pourova R; Department of Biology and Medical Genetics, Second Medical Faculty, Charles University and UH Motol, Prague, Czech Republic., Sadek AA; Pediatric Neurology, Faculty of Medicine, Sohag University, Sohag, Egypt., Elkhateeb NM; 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Publikováno v:
Brain : a journal of neurology [Brain] 2020 Oct 01; Vol. 143 (10), pp. 2929-2944.
Autor:
Brea-Fernández AJ; Grupo de Medicina Xenómica, Universidad de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain. a.brea@usc.es., Cabanas P; Complexo Hospitalario Universitario de Santiago de Compostela, Unidad de Endocrinología Pediátrica, Departamento de Pediatría, Santiago de Compostela, Spain., Dacruz-Álvarez D; Complexo Hospitalario Universitario de Santiago de Compostela, Unidad de Neurología Pediátrica, Departamento de Pediatría, Santiago de Compostela, Spain., Caamaño P; Fundación Pública Galega de Medicina Xenómica-SERGAS, Santiago de Compostela, Spain., Limeres J; Unidad de Odontología para Personas con Necesidades Especiales, Facultad de Medicina y Odontología, Universidad de Santiago de Compostela, Santiago de Compostela, Spain., Loidi L; Fundación Pública Galega de Medicina Xenómica-SERGAS, Santiago de Compostela, Spain.
Publikováno v:
Journal of human genetics [J Hum Genet] 2019 Nov; Vol. 64 (11), pp. 1133-1136. Date of Electronic Publication: 2019 Sep 03.
Autor:
Brea-Fernández AJ; Grupo de Medicina Xenómica-USC, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain; Unidad de Investigación, Hospital General Universitario, Alicante, Spain., Cameselle-Teijeiro JM, Alenda C, Fernández-Rozadilla C, Cubiella J, Clofent J, Reñé JM, Anido U, Milá M, Balaguer F, Castells A, Castellvi-Bel S, Jover R, Carracedo A, Ruiz-Ponte C
Publikováno v:
Clinical genetics [Clin Genet] 2014 Jun; Vol. 85 (6), pp. 583-8. Date of Electronic Publication: 2013 Jul 28.
Autor:
Brea-Fernández AJ; Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, Fundación Galegade Medicina Xenómica (Consellería de Sanidade), Santiago de Compostela, Spain., Pomares E, Brión MJ, Marfany G, Blanco MJ, Sánchez-Salorio M, González-Duarte R, Carracedo A
Publikováno v:
The British journal of ophthalmology [Br J Ophthalmol] 2008 Oct; Vol. 92 (10), pp. 1419-23.