Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Barbero AIS"'
Autor:
Barbero AIS; Department of Clinical and Molecular Genetics and Rare Disease Unit, Vall Hebron Research Institute, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit, Vall Hebron Research Institute, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Fernández-Alvarez P; Department of Clinical and Molecular Genetics and Rare Disease Unit, Vall Hebron Research Institute, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Vazquez É; Department of Pediatric Radiology, Hospital Vall d'Hebron, Barcelona, Spain., Cueto-Gonzalez AM; Department of Clinical and Molecular Genetics and Rare Disease Unit, Vall Hebron Research Institute, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Lasa-Aranzasti A; Department of Clinical and Molecular Genetics and Rare Disease Unit, Vall Hebron Research Institute, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Trujillano L; Department of Clinical and Molecular Genetics and Rare Disease Unit, Vall Hebron Research Institute, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Masotto B; Department of Clinical and Molecular Genetics and Rare Disease Unit, Vall Hebron Research Institute, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Arumí EG; Department of Clinical and Molecular Genetics and Rare Disease Unit, Vall Hebron Research Institute, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Tizzano EF; Department of Clinical and Molecular Genetics and Rare Disease Unit, Vall Hebron Research Institute, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov 01, pp. e63905. Date of Electronic Publication: 2024 Nov 01.
Autor:
Pascual P; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Tenorio-Castano J; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Mignot C; Département de Génétique, APHP Sorbonne Université, 75013 Paris, France.; Centre de Réference Déficiences Intellectuelles de Causes Rares, 75013 Paris, France., Afenjar A; Département de Génétique, APHP Sorbonne Université, 75013 Paris, France.; Centre de Réference Déficiences Intellectuelles de Causes Rares, 75013 Paris, France., Arias P; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Gallego-Zazo N; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Parra A; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Miranda L; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Cazalla M; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain., Silván C; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain., Heron D; Département de Génétique, APHP Sorbonne Université, 75013 Paris, France.; Centre de Réference Déficiences Intellectuelles de Causes Rares, 75013 Paris, France., Keren B; Département de Génétique, APHP Sorbonne Université, 75013 Paris, France., Popa I; Département de Génétique, APHP Sorbonne Université, 75013 Paris, France., Palomares M; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Rikeros E; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Ramos FJ; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; Unidad de Genética Clínica, Servicio de Pediatría, Hospital Clínico Universitario 'Lozano Blesa', Facultad de Medicina, Universidad de Zaragoza, IIS-Aragón Grupo B32-20R, 50013 Zaragoza, Spain., Almoguera B; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; Department of Genetics and Genomics, Fundación Jiménez Díaz University Hospital, Health Research Institute Fundación Jiménez Díaz (IIS-FJD), 28040 Madrid, Spain., Ayuso C; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; Department of Genetics and Genomics, Fundación Jiménez Díaz University Hospital, Health Research Institute Fundación Jiménez Díaz (IIS-FJD), 28040 Madrid, Spain., Swafiri ST; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; Department of Genetics and Genomics, Fundación Jiménez Díaz University Hospital, Health Research Institute Fundación Jiménez Díaz (IIS-FJD), 28040 Madrid, Spain., Barbero AIS; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; Department of Genetics and Genomics, Fundación Jiménez Díaz University Hospital, Health Research Institute Fundación Jiménez Díaz (IIS-FJD), 28040 Madrid, Spain., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560029, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560029, India., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy., D'Arrigo S; ITHACA, European Reference Network, 1140 Brussels, Belgium.; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Ciaccio C; ITHACA, European Reference Network, 1140 Brussels, Belgium.; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Martin Mesa C; HM Hospitales, 28660 Madrid, Spain., Paumard B; HM Hospitales, 28660 Madrid, Spain., Guillen G; HM Hospitales, 28660 Madrid, Spain., Anton ATS; Department of Medical Genetics, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, 30120 Murcia, Spain., Jimenez MD; Department of Medical Genetics, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, 30120 Murcia, Spain., Seidel V; Genomics Unit, HGU Gregorio Marañón, 28007 Madrid, Spain., Suárez J; Genomics Unit, HGU Gregorio Marañón, 28007 Madrid, Spain., Cormier-Daire V; Department of Genomic Medicine for Rare Diseases, INSERM UMR1163, Imagine Institute, Necker Enfants Malades Hospital, Paris Cité University, 75015 Paris, France., Consortium TS; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Nevado J; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Lapunzina P; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium.
Publikováno v:
Genes [Genes (Basel)] 2023 Aug 23; Vol. 14 (9). Date of Electronic Publication: 2023 Aug 23.