Zobrazeno 1 - 10
of 11
pro vyhledávání: '"MÁ Moreno-Pelayo"'
Autor:
J Fernández Fradejas, M Morín-Rodríguez, E Gemeno-López, E Delgado-Silveira, MÁ Moreno-Pelayo, AM Alvarez Diaz
Publikováno v:
Section 5: Patient safety and quality assurance.
Autor:
Zhu GJ; State Key Laboratory of Pharmaceutical Biotechnology, Department of Otolaryngology Head and Neck Surgery, Jiangsu Provincial Key Medical Discipline (Laboratory), The Affiliated Drum Tower Hospital of Medical School, Model Animal Research Center of Medical School, Nanjing University, Nanjing, China.; MOE Key Laboratory of Model Animal for Disease Study, Jiangsu Key Laboratory of Molecular Medicine, National Resource Center for Mutant Mice of China, Nanjing University, Nanjing, China.; Research Institute of Otolaryngology, Nanjing, China., Huang Y; State Key Laboratory of Pharmaceutical Biotechnology, Department of Otolaryngology Head and Neck Surgery, Jiangsu Provincial Key Medical Discipline (Laboratory), The Affiliated Drum Tower Hospital of Medical School, Model Animal Research Center of Medical School, Nanjing University, Nanjing, China.; MOE Key Laboratory of Model Animal for Disease Study, Jiangsu Key Laboratory of Molecular Medicine, National Resource Center for Mutant Mice of China, Nanjing University, Nanjing, China., Zhang L; State Key Laboratory of Pharmaceutical Biotechnology, Department of Otolaryngology Head and Neck Surgery, Jiangsu Provincial Key Medical Discipline (Laboratory), The Affiliated Drum Tower Hospital of Medical School, Model Animal Research Center of Medical School, Nanjing University, Nanjing, China.; MOE Key Laboratory of Model Animal for Disease Study, Jiangsu Key Laboratory of Molecular Medicine, National Resource Center for Mutant Mice of China, Nanjing University, Nanjing, China., Yan K; Shandong Provincial Key Laboratory of Animal Cells and Developmental Biology and Key Laboratory for Experimental Teratology of the Ministry of Education, School of Life Sciences, Shandong University, Qingdao, China., Qiu C; State Key Laboratory of Pharmaceutical Biotechnology, Department of Otolaryngology Head and Neck Surgery, Jiangsu Provincial Key Medical Discipline (Laboratory), The Affiliated Drum Tower Hospital of Medical School, Model Animal Research Center of Medical School, Nanjing University, Nanjing, China.; MOE Key Laboratory of Model Animal for Disease Study, Jiangsu Key Laboratory of Molecular Medicine, National Resource Center for Mutant Mice of China, Nanjing University, Nanjing, China., He Y; State Key Laboratory of Pharmaceutical Biotechnology, Department of Otolaryngology Head and Neck Surgery, Jiangsu Provincial Key Medical Discipline (Laboratory), The Affiliated Drum Tower Hospital of Medical School, Model Animal Research Center of Medical School, Nanjing University, Nanjing, China.; MOE Key Laboratory of Model Animal for Disease Study, Jiangsu Key Laboratory of Molecular Medicine, National Resource Center for Mutant Mice of China, Nanjing University, Nanjing, China., Liu Q; State Key Laboratory of Pharmaceutical Biotechnology, Department of Otolaryngology Head and Neck Surgery, Jiangsu Provincial Key Medical Discipline (Laboratory), The Affiliated Drum Tower Hospital of Medical School, Model Animal Research Center of Medical School, Nanjing University, Nanjing, China.; MOE Key Laboratory of Model Animal for Disease Study, Jiangsu Key Laboratory of Molecular Medicine, National Resource Center for Mutant Mice of China, Nanjing University, Nanjing, China.; Research Institute of Otolaryngology, Nanjing, China., Zhu C; State Key Laboratory of Pharmaceutical Biotechnology, Department of Otolaryngology Head and Neck Surgery, Jiangsu Provincial Key Medical Discipline (Laboratory), The Affiliated Drum Tower Hospital of Medical School, Model Animal Research Center of Medical School, Nanjing University, Nanjing, China.; MOE Key Laboratory of Model Animal for Disease Study, Jiangsu Key Laboratory of Molecular Medicine, National Resource Center for Mutant Mice of China, Nanjing University, Nanjing, China.; Research Institute of Otolaryngology, Nanjing, China., Morín M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III (CB06/07/0048; CIBERER-ISCIII), Madrid, Spain., Moreno-Pelayo MÁ; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III (CB06/07/0048; CIBERER-ISCIII), Madrid, Spain., Zhu MS; State Key Laboratory of Pharmaceutical Biotechnology, Department of Otolaryngology Head and Neck Surgery, Jiangsu Provincial Key Medical Discipline (Laboratory), The Affiliated Drum Tower Hospital of Medical School, Model Animal Research Center of Medical School, Nanjing University, Nanjing, China.; MOE Key Laboratory of Model Animal for Disease Study, Jiangsu Key Laboratory of Molecular Medicine, National Resource Center for Mutant Mice of China, Nanjing University, Nanjing, China.; Research Institute of Otolaryngology, Nanjing, China., Cao X; Department of Medical Genetics, School of Basic Medical Science, Nanjing Medical University, Nanjing, China., Zhou H; State Key Laboratory of Pharmaceutical Biotechnology, Department of Otolaryngology Head and Neck Surgery, Jiangsu Provincial Key Medical Discipline (Laboratory), The Affiliated Drum Tower Hospital of Medical School, Model Animal Research Center of Medical School, Nanjing University, Nanjing, China.; Research Institute of Otolaryngology, Nanjing, China., Qian X; State Key Laboratory of Pharmaceutical Biotechnology, Department of Otolaryngology Head and Neck Surgery, Jiangsu Provincial Key Medical Discipline (Laboratory), The Affiliated Drum Tower Hospital of Medical School, Model Animal Research Center of Medical School, Nanjing University, Nanjing, China.; Research Institute of Otolaryngology, Nanjing, China., Xu Z; Shandong Provincial Key Laboratory of Animal Cells and Developmental Biology and Key Laboratory for Experimental Teratology of the Ministry of Education, School of Life Sciences, Shandong University, Qingdao, China., Chen J; State Key Laboratory of Pharmaceutical Biotechnology, Department of Otolaryngology Head and Neck Surgery, Jiangsu Provincial Key Medical Discipline (Laboratory), The Affiliated Drum Tower Hospital of Medical School, Model Animal Research Center of Medical School, Nanjing University, Nanjing, China.; Research Institute of Otolaryngology, Nanjing, China., Gao X; State Key Laboratory of Pharmaceutical Biotechnology, Department of Otolaryngology Head and Neck Surgery, Jiangsu Provincial Key Medical Discipline (Laboratory), The Affiliated Drum Tower Hospital of Medical School, Model Animal Research Center of Medical School, Nanjing University, Nanjing, China.; Research Institute of Otolaryngology, Nanjing, China., Wan G; State Key Laboratory of Pharmaceutical Biotechnology, Department of Otolaryngology Head and Neck Surgery, Jiangsu Provincial Key Medical Discipline (Laboratory), The Affiliated Drum Tower Hospital of Medical School, Model Animal Research Center of Medical School, Nanjing University, Nanjing, China.; MOE Key Laboratory of Model Animal for Disease Study, Jiangsu Key Laboratory of Molecular Medicine, National Resource Center for Mutant Mice of China, Nanjing University, Nanjing, China.; Research Institute of Otolaryngology, Nanjing, China.
Publikováno v:
EMBO molecular medicine [EMBO Mol Med] 2023 Nov 08; Vol. 15 (11), pp. e17611. Date of Electronic Publication: 2023 Sep 11.
Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.
Autor:
Lachgar-Ruiz M; Wolfson Centre for Age-Related Diseases, King's College London, Guy's Campus, London SE1 1UL, UK.; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS and Biomedical Network Research Centre on Rare Diseases (CIBERER), km 9.100, 28034 Madrid, Spain., Morín M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS and Biomedical Network Research Centre on Rare Diseases (CIBERER), km 9.100, 28034 Madrid, Spain., Martelletti E; Wolfson Centre for Age-Related Diseases, King's College London, Guy's Campus, London SE1 1UL, UK., Ingham NJ; Wolfson Centre for Age-Related Diseases, King's College London, Guy's Campus, London SE1 1UL, UK., Preite L; Wolfson Centre for Age-Related Diseases, King's College London, Guy's Campus, London SE1 1UL, UK., Lewis MA; Wolfson Centre for Age-Related Diseases, King's College London, Guy's Campus, London SE1 1UL, UK., Serrão de Castro LS; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS and Biomedical Network Research Centre on Rare Diseases (CIBERER), km 9.100, 28034 Madrid, Spain., Steel KP; Wolfson Centre for Age-Related Diseases, King's College London, Guy's Campus, London SE1 1UL, UK., Moreno-Pelayo MÁ; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS and Biomedical Network Research Centre on Rare Diseases (CIBERER), km 9.100, 28034 Madrid, Spain.
Publikováno v:
Disease models & mechanisms [Dis Model Mech] 2023 Aug 01; Vol. 16 (8). Date of Electronic Publication: 2023 Aug 17.
Autor:
Bravo-Alonso I; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, IdiPAZ, Madrid, Spain., Morin M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III (CB06/07/0048; CIBERER-ISCIII), Madrid, Spain., Arribas-Carreira L; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, IdiPAZ, Madrid, Spain., Álvarez M; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, IdiPAZ, Madrid, Spain., Pedrón-Giner C; Sección de Gastroenterología y Nutrición, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Soletto L; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain., Santolaria C; Institut de Biotecnologia i Biomedicina & Departament de Bioquímica i Biologia Molecular, Universitat Autònoma de Barcelona, Cerdanyola del Vallès, Spain., Ramón-Maiques S; Instituto de Biomedicina de Valencia (IBV) CSIC. CIBERER., Valencia, Spain., Ugarte M; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, IdiPAZ, Madrid, Spain., Rodríguez-Pombo P; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, IdiPAZ, Madrid, Spain., Ariño J; Institut de Biotecnologia i Biomedicina & Departament de Bioquímica i Biologia Molecular, Universitat Autònoma de Barcelona, Cerdanyola del Vallès, Spain., Moreno-Pelayo MÁ; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III (CB06/07/0048; CIBERER-ISCIII), Madrid, Spain., Pérez B; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, IdiPAZ, Madrid, Spain.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Mar; Vol. 46 (2), pp. 261-272. Date of Electronic Publication: 2023 Jan 02.
Autor:
Madrid-Elena N; Department of Infectious Diseases, Hospital Universitario Ramón y Cajal and Instituto de Investigación Sanitaria Ramón y Cajal (IRYCIS), Madrid, Spain.; Centro de Investigación en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III (IRYCIS), Madrid, Spain., Serrano-Villar S; Department of Infectious Diseases, Hospital Universitario Ramón y Cajal and Instituto de Investigación Sanitaria Ramón y Cajal (IRYCIS), Madrid, Spain.; Centro de Investigación en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III (IRYCIS), Madrid, Spain.; Department of Medicine, University of California San Francisco, San Francisco, CA, United States., Gutiérrez C; Department of Infectious Diseases, Hospital Universitario Ramón y Cajal and Instituto de Investigación Sanitaria Ramón y Cajal (IRYCIS), Madrid, Spain.; Centro de Investigación en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III (IRYCIS), Madrid, Spain., Sastre B; Department of Immunology, Instituto de Investigación Sanitaria (IIS)-Fundación Jiménez Díaz, Madrid, Spain.; Centro de Investigación Biomédica en Red (CIBER) de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain., Morín M; Department of Genetics, Hospital Universitario Ramón y Cajal and Instituto de Investigación Sanitaria Ramón y Cajal, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Luna L; Department of Infectious Diseases, Hospital Universitario Ramón y Cajal and Instituto de Investigación Sanitaria Ramón y Cajal (IRYCIS), Madrid, Spain.; Centro de Investigación en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III (IRYCIS), Madrid, Spain., Martín L; Biomarkers and Therapeutic Targets Group and Core Facility, Instituto Ramón y Cajal de Investigación Sanitaria (Instituto de Investigación Sanitaria Ramón y Cajal), Spanish Renal Research Network (REDinREN), Madrid, Spain., Santoyo-López J; Edinburgh Genomics, The University of Edinburgh, Edinburgh, United Kingdom., López-Huertas MR; Immunopathology Unit, National Center of Microbiology, Instituto de Salud Carlos III, Madrid, Spain., Moreno E; Department of Infectious Diseases, Hospital Universitario Ramón y Cajal and Instituto de Investigación Sanitaria Ramón y Cajal (IRYCIS), Madrid, Spain.; Centro de Investigación en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III (IRYCIS), Madrid, Spain., García-Bermejo ML; Biomarkers and Therapeutic Targets Group and Core Facility, Instituto Ramón y Cajal de Investigación Sanitaria (Instituto de Investigación Sanitaria Ramón y Cajal), Spanish Renal Research Network (REDinREN), Madrid, Spain., Moreno-Pelayo MÁ; Department of Genetics, Hospital Universitario Ramón y Cajal and Instituto de Investigación Sanitaria Ramón y Cajal, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Moreno S; Department of Infectious Diseases, Hospital Universitario Ramón y Cajal and Instituto de Investigación Sanitaria Ramón y Cajal (IRYCIS), Madrid, Spain.; Centro de Investigación en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III (IRYCIS), Madrid, Spain.; Department of Medicine, Alcalá University, Alcalá de Henares, Spain.
Publikováno v:
Frontiers in immunology [Front Immunol] 2022 Sep 26; Vol. 13, pp. 998368. Date of Electronic Publication: 2022 Sep 26 (Print Publication: 2022).
Autor:
López-Márquez A; Laboratorio de Investigación Aplicada en Enfermedades Neuromusculares, Unidad de Patología Neuromuscular, Servicio de Neuropediatría, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Av. Monforte de Lemos 3-5, 28029 Madrid, Spain.; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain., Morín M; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Av. Monforte de Lemos 3-5, 28029 Madrid, Spain.; Servicio de Genética, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria, Ctra. de Colmenar Viejo Km. 9.100, 28034 Madrid, Spain., Fernández-Peñalver S; Servicio de Genética, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria, Ctra. de Colmenar Viejo Km. 9.100, 28034 Madrid, Spain., Badosa C; Laboratorio de Investigación Aplicada en Enfermedades Neuromusculares, Unidad de Patología Neuromuscular, Servicio de Neuropediatría, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain., Hernández-Delgado A; Laboratorio de Investigación Aplicada en Enfermedades Neuromusculares, Unidad de Patología Neuromuscular, Servicio de Neuropediatría, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain., Natera-de Benito D; Laboratorio de Investigación Aplicada en Enfermedades Neuromusculares, Unidad de Patología Neuromuscular, Servicio de Neuropediatría, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain., Ortez C; Laboratorio de Investigación Aplicada en Enfermedades Neuromusculares, Unidad de Patología Neuromuscular, Servicio de Neuropediatría, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain., Nascimento A; Laboratorio de Investigación Aplicada en Enfermedades Neuromusculares, Unidad de Patología Neuromuscular, Servicio de Neuropediatría, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Av. Monforte de Lemos 3-5, 28029 Madrid, Spain.; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain., Grinberg D; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Av. Monforte de Lemos 3-5, 28029 Madrid, Spain.; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.; Departamento de Genética, Microbiología y Estadística, Facultad de Biología, Institut de Biomedicina de la Universitat de Barcelona (IBUB), Universitat de Barcelona, Av. Diagonal 643, 08028 Barcelona, Spain., Balcells S; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Av. Monforte de Lemos 3-5, 28029 Madrid, Spain.; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.; Departamento de Genética, Microbiología y Estadística, Facultad de Biología, Institut de Biomedicina de la Universitat de Barcelona (IBUB), Universitat de Barcelona, Av. Diagonal 643, 08028 Barcelona, Spain., Roldán M; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.; Unidad de Microscopia Confocal e Imagen Celular, Servicio de Medicina Genética y Molecular, Institut Pediàtric de Malalties Rares (IPER), Hospital Sant Joan de Déu, Passeig Sant Joan de Deu, 2, 08950 Esplugues de Llobregat, Spain., Moreno-Pelayo MÁ; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Av. Monforte de Lemos 3-5, 28029 Madrid, Spain.; Servicio de Genética, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria, Ctra. de Colmenar Viejo Km. 9.100, 28034 Madrid, Spain., Jiménez-Mallebrera C; Laboratorio de Investigación Aplicada en Enfermedades Neuromusculares, Unidad de Patología Neuromuscular, Servicio de Neuropediatría, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Av. Monforte de Lemos 3-5, 28029 Madrid, Spain.; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2022 Apr 16; Vol. 23 (8). Date of Electronic Publication: 2022 Apr 16.
Autor:
Lachgar M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Carretera de Colmenar km 9.100, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain., Morín M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Carretera de Colmenar km 9.100, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain., Villamar M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Carretera de Colmenar km 9.100, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain., Del Castillo I; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Carretera de Colmenar km 9.100, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain., Moreno-Pelayo MÁ; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Carretera de Colmenar km 9.100, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain.
Publikováno v:
Genes [Genes (Basel)] 2021 Mar 12; Vol. 12 (3). Date of Electronic Publication: 2021 Mar 12.
Autor:
Peña-Chilet M; Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), Hospital Virgen del Rocío, Sevilla 41013, Spain.; Bioinformatics in Rare Diseases (BiER), Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Sevilla 41013, Spain.; Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Rocío, Sevilla 41013, Spain., Roldán G; Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), Hospital Virgen del Rocío, Sevilla 41013, Spain., Perez-Florido J; Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), Hospital Virgen del Rocío, Sevilla 41013, Spain.; Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Rocío, Sevilla 41013, Spain.; Functional Genomics Node, FPS/ELIXIR-ES, Hospital Virgen del Rocío, Sevilla 41013, Spain., Ortuño FM; Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), Hospital Virgen del Rocío, Sevilla 41013, Spain.; Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Rocío, Sevilla 41013, Spain.; Functional Genomics Node, FPS/ELIXIR-ES, Hospital Virgen del Rocío, Sevilla 41013, Spain., Carmona R; Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), Hospital Virgen del Rocío, Sevilla 41013, Spain., Aquino V; Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), Hospital Virgen del Rocío, Sevilla 41013, Spain., Lopez-Lopez D; Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), Hospital Virgen del Rocío, Sevilla 41013, Spain.; Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Rocío, Sevilla 41013, Spain., Loucera C; Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), Hospital Virgen del Rocío, Sevilla 41013, Spain.; Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Rocío, Sevilla 41013, Spain., Fernandez-Rueda JL; Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), Hospital Virgen del Rocío, Sevilla 41013, Spain., Gallego A; Sistemas Genomicos, Paterna, Valencia 46980, Spain., García-Garcia F; Unidad de Bioinformática y Bioestadística, Centro de Investigación Príncipe Felipe (CIPF), Valencia 46012, Spain., González-Neira A; Human Genotyping Unit-Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain., Pita G; Human Genotyping Unit-Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain., Núñez-Torres R; Human Genotyping Unit-Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain., Santoyo-López J; Edinburgh Genomics, The University of Edinburgh, Edinburgh EH9 3FL, UK., Ayuso C; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain., Minguez P; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid 28040, Spain., Avila-Fernandez A; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain., Corton M; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain., Moreno-Pelayo MÁ; Servicio de Genética, Ramón y Cajal Institute of Health Research (IRYCIS) and Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid 28034, Spain., Morin M; Servicio de Genética, Ramón y Cajal Institute of Health Research (IRYCIS) and Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid 28034, Spain., Gallego-Martinez A; Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENYO), Pfizer University of Granada, Granada 18016, Spain.; Department of Otolaryngology, Instituto de Investigación Biosanitaria, IBS. GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada 18016, Spain., Lopez-Escamez JA; Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENYO), Pfizer University of Granada, Granada 18016, Spain.; Department of Otolaryngology, Instituto de Investigación Biosanitaria, IBS. GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada 18016, Spain., Borrego S; Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville 41013, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville 41013, Spain., Antiñolo G; Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville 41013, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville 41013, Spain., Amigo J; Fundación Pública Galega de Medicina Xenómica, SERGAS, IDIS, Santiago de Compostela 15706, Spain., Salgado-Garrido J; Navarrabiomed-IdiSNA, Complejo Hospitalario de Navarra, Universidad Pública de Navarra (UPNA), IdiSNA (Navarra Institute for Health Research), Pamplona, Navarra 31008, Spain., Pasalodos-Sanchez S; Navarrabiomed-IdiSNA, Complejo Hospitalario de Navarra, Universidad Pública de Navarra (UPNA), IdiSNA (Navarra Institute for Health Research), Pamplona, Navarra 31008, Spain., Morte B; Undiagnosed Rare Diseases Programme (ENoD). Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid 28029, Spain., Carracedo Á; Fundación Pública Galega de Medicina Xenómica, SERGAS, IDIS, Santiago de Compostela 15706, Spain.; Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de Compostela, Santiago de Compostela, España., Alonso Á; Navarrabiomed-IdiSNA, Complejo Hospitalario de Navarra, Universidad Pública de Navarra (UPNA), IdiSNA (Navarra Institute for Health Research), Pamplona, Navarra 31008, Spain., Dopazo J; Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), Hospital Virgen del Rocío, Sevilla 41013, Spain.; Bioinformatics in Rare Diseases (BiER), Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Sevilla 41013, Spain.; Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Rocío, Sevilla 41013, Spain.; Functional Genomics Node, FPS/ELIXIR-ES, Hospital Virgen del Rocío, Sevilla 41013, Spain.
Publikováno v:
Nucleic acids research [Nucleic Acids Res] 2021 Jan 08; Vol. 49 (D1), pp. D1130-D1137.
Autor:
Fernández A; National Centre for Biotechnology (CNB), CSIC, Madrid, Spain.; CIBER of Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Morín M; CIBER of Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Servicio de Genética, Ramón y Cajal University Hospital, IRYCIS, Madrid, Spain., Muñoz-Santos D; National Centre for Biotechnology (CNB), CSIC, Madrid, Spain.; CIBER of Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Josa S; National Centre for Biotechnology (CNB), CSIC, Madrid, Spain.; CIBER of Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Montero A; National Centre for Biotechnology (CNB), CSIC, Madrid, Spain.; CIBER of Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Rubio-Fernández M; National Centre for Biotechnology (CNB), CSIC, Madrid, Spain.; CIBER of Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Cantero M; National Centre for Biotechnology (CNB), CSIC, Madrid, Spain.; CIBER of Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Fernández J; National Centre for Biotechnology (CNB), CSIC, Madrid, Spain.; CIBER of Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Del Hierro MJ; National Centre for Biotechnology (CNB), CSIC, Madrid, Spain., Castrillo M; National Centre for Biotechnology (CNB), CSIC, Madrid, Spain., Moreno-Pelayo MÁ; CIBER of Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Servicio de Genética, Ramón y Cajal University Hospital, IRYCIS, Madrid, Spain., Montoliu L; National Centre for Biotechnology (CNB), CSIC, Madrid, Spain.; CIBER of Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
Publikováno v:
Current protocols in mouse biology [Curr Protoc Mouse Biol] 2020 Mar; Vol. 10 (1), pp. e69.
Autor:
López-Huertas MR; Servicio de Enfermedades Infecciosas, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) and Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain. Electronic address: mariarosa.lopezhuertas@gmail.com., Morín M; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) and Hospital Universitario Ramón y Cajal, CIBERER, 28034 Madrid, Spain., Madrid-Elena N; Servicio de Enfermedades Infecciosas, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) and Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain., Gutiérrez C; Servicio de Enfermedades Infecciosas, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) and Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain., Jiménez-Tormo L; Servicio de Enfermedades Infecciosas, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) and Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain., Santoyo J; Edinburgh Genomics, The Roslin Institute, University of Edinburgh, Scotland, UK., Sanz-Rodríguez F; Fluorescence Imaging Group, Departamento de Biología, Facultad de Ciencias, Universidad Autónoma de Madrid, 28049 Madrid, Spain; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) and Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain., Moreno Pelayo MÁ; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) and Hospital Universitario Ramón y Cajal, CIBERER, 28034 Madrid, Spain., Bermejo LG; Grupo de Biomarcadores y Dianas Terapéuticas, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) and Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain. Electronic address: garciabermejo@gmail.com., Moreno S; Servicio de Enfermedades Infecciosas, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) and Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain; Facultad de Medicina y Ciencias de la Salud, Universidad de Alcalá de Henares, 28871 Alcalá de Henares, Spain.
Publikováno v:
Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2019 Sep 06; Vol. 17, pp. 323-336. Date of Electronic Publication: 2019 Jun 20.