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pro vyhledávání: '"Sanchez-Calvin MT"'
Akademický článek
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Autor:
Martinez-Cayuelas E; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Blanco-Kelly F; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Lopez-Grondona F; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain., Swafiri ST; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Lopez-Rodriguez R; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; School of Pharmacy, Universidad San Pablo CEU. CEU Universities, Madrid, Spain., Losada-Del Pozo R; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Mahillo-Fernandez I; Department of Statistics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain., Moreno B; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Rodrigo-Moreno M; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Casas-Alba D; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain., Lopez-Gonzalez A; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain., García-Miñaúr S; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Ángeles Mori M; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Pacio-Minguez M; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Rikeros-Orozco E; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Santos-Simarro F; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Cruz-Rojo J; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Endocrinology Unit, Department of Pediatrics, Hospital Universitario 12 de Octubre, Madrid, Spain., Quesada-Espinosa JF; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Sanchez-Calvin MT; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Sanchez-Del Pozo J; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Endocrinology Unit, Department of Pediatrics, Hospital Universitario 12 de Octubre, Madrid, Spain., Bernado Fonz R; Pediatric Neurology Unit, Department of Pediatrics, Navarrabiomed Pediatric Neurology Research Group, Hospital Universitario de Navarra, Pamplona, Spain., Isidoro-Garcia M; Department of Biochemistry, Hospital Universitario de Salamanca. IBSAL Universidad de Salamanca, Salamanca, Spain., Ruiz-Ayucar I; Department of Pediatrics, Hospital Universitario de Salamanca, Salamanca, Spain., Alvarez-Mora MI; Department of Biochemistry and Molecular Genetics, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Hospital Clinic de Barcelona, Barcelona, Spain., Blanco-Lago R; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain., De Azua B; Department of Pediatrics, Hospital Son Llàtzer, Palma de Mallorca, Spain., Eiris J; Department of Pediatric Neurology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain., Garcia-Peñas JJ; Pediatric Neurology Unit, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Gil-Fournier B; Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain., Gomez-Lado C; Department of Pediatric Neurology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain., Irazabal N; Department of Pediatrics, Hospital Can Misses, Eivissa, Spain., Lopez-Gonzalez V; Medical Genetics Unit, Department of Genetics, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain., Madrigal I; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Department of Biochemistry and Molecular Genetics, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Hospital Clinic de Barcelona, Barcelona, Spain., Malaga I; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain., Martinez-Menendez B; Pediatric Neurology Unit, Department of Neurology, Hospital Universitario de Getafe, Madrid, Spain., Ramiro-Leon S; Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain., Garcia-Hoyos M; Genetic Diagnosis Service, NIMGenetics Genomics and Medicine, Madrid, Spain., Prieto-Matos P; Department of Pediatrics, Hospital Universitario de Salamanca, Salamanca, Spain., Lopez-Pison J; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Miguel Servet, Zaragoza, Spain., Aguilera-Albesa S; Pediatric Neurology Unit, Department of Pediatrics, Navarrabiomed Pediatric Neurology Research Group, Hospital Universitario de Navarra, Pamplona, Spain., Alvarez S; Genetic Diagnosis Service, NIMGenetics Genomics and Medicine, Madrid, Spain., Fernández-Jaén A; Department of Pediatric Neurology, Hospital Universitario Quironsalud Madrid, Madrid, Spain., Llano-Rivas I; Department of Genetics, Hospital Universitario de Cruces. Biocruces Bizcaia Health Research Institute, Bizcaia, Spain., Gener-Querol B; Department of Genetics, Hospital Universitario de Cruces. Biocruces Bizcaia Health Research Institute, Bizcaia, Spain., Ayuso C; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Arteche-Lopez A; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Palomares-Bralo M; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Cueto-González A; Department of Clinical and Molecular Genetics, Vall d'Hebron Research Institute, Hospital Universitario Vall d'Hebron, Barcelona, Spain., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron Research Institute, Hospital Universitario Vall d'Hebron, Barcelona, Spain., Martinez-Monseny A; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain., Lorda-Sanchez I; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Almoguera B; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain balmoguera@quironsalud.es.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
Publikováno v:
Journal of medical genetics [J Med Genet] 2023 Jul; Vol. 60 (7), pp. 644-654. Date of Electronic Publication: 2022 Nov 29.
Autor:
Segarra-Casas A; Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Genetics and Microbiology Department, Universitat Autonoma de Barcelona, Bellaterra, Spain., Domínguez-González C; Neuromuscular Unit, Neurology Department, imas12 Research Institute, Hospital Universitario 12 de Octubre, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Hernández-Laín A; Neuropathology Unit, imas12 Research Institute, Hospital Universitario 12 de Octubre, Madrid, Spain., Sanchez-Calvin MT; Clinical Genetics Unit, Genetics department, Hospital Universitario 12 de Octubre, Madrid, Spain.; UDISGEN (Unidad de Dismorfología y Genética), Hospital Universitario 12 de Octubre, Madrid, Spain., Camacho A; Paediatric Neurology Unit, Universidad Complutense de Madrid, Hospital Universitario 12 de Octubre, Madrid, Spain., Rivas E; Pathology Department, Instituto de Biomedicina de Sevilla, CSIC, Universidad de Sevilla, Hospital Universitario Virgen del Rocio, Sevilla, Spain., Campo-Barasoain A; UGC Pediatrics Department, Hospital Universitario Virgen Macarena, Sevilla, Spain., Madruga M; Neurology Department, Neurolinkia, Sevilla, Spain.; Hospital Viamed Santa Ángela de la Cruz, Sevilla, 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., 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., Nascimento A; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; 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., Codina A; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Rodriguez MJ; Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Gallano P; Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain pgallano@santpau.cat.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Gonzalez-Quereda L; Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
Publikováno v:
Journal of medical genetics [J Med Genet] 2023 Jun; Vol. 60 (6), pp. 615-619. Date of Electronic Publication: 2022 Dec 19.
Autor:
Alvarez-Mora MI; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Biochemistry and Molecular Genetic Service, Hospital Clínic de Barcelona, 08036 Barcelona, Spain., Blanco-Palmero VA; Neurology Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Quesada-Espinosa JF; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Arteche-Lopez AR; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Llamas-Velasco S; Neurology Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Palma Milla C; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Lezana Rosales JM; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Gomez-Manjon I; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Hernandez-Lain A; Neuropathology Unit, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Jimenez Almonacid J; Neuropathology Unit, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Gil-Fournier B; Genetic Service, Hospital Universitario de Getafe, 28905 Madrid, Spain., Ramiro-León S; Genetic Service, Hospital Universitario de Getafe, 28905 Madrid, Spain., González-Sánchez M; Neurology Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Herrero-San Martín AO; Neurology Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Pérez-Martínez DA; Neurology Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Gómez-Tortosa E; Neurology Department, Fundación Jiménez Díaz, 28040 Madrid, Spain., Carro E; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Bartolomé F; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Gomez-Rodriguez MJ; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Network Center for Biomedical Research in Cancer (CIBERONC), 28029 Madrid, Spain., Sanchez-Calvin MT; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Villarejo-Galende A; Neurology Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Moreno-Garcia M; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2022 Apr 11; Vol. 23 (8). Date of Electronic Publication: 2022 Apr 11.