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Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.
Rodríguez-Solana, Patricia; Arruti, Natalia; Nieves-Moreno, María; Mena, Rocío; Rodríguez-Jiménez, Carmen; Guerrero-Carretero, Marta; Acal, Juan Carlos; Blasco, Joana; Peralta, Jesús M; Del Pozo, Ángela; Montaño, Victoria E F; Dios-Blázquez, Lucía De; Fernández-Alcalde, Celia; González-Atienza, Carmen; Sánchez-Cazorla, Eloísa; Gómez-Cano, María de Los Ángeles; Delgado-Mora, Luna; Noval, Susana; Vallespín, Elena.
Afiliação
  • Rodríguez-Solana P; Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
  • Arruti N; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
  • Nieves-Moreno M; European Reference Network on Eye Diseases (ERN-EYE), La Paz University Hospital, 28046 Madrid, Spain.
  • Mena R; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
  • Rodríguez-Jiménez C; European Reference Network on Eye Diseases (ERN-EYE), La Paz University Hospital, 28046 Madrid, Spain.
  • Guerrero-Carretero M; Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
  • Acal JC; Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.
  • Blasco J; Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
  • Peralta JM; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
  • Del Pozo Á; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
  • Montaño VEF; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
  • Dios-Blázquez L; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
  • Fernández-Alcalde C; Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.
  • González-Atienza C; Clinical Bioinformatics Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, CIBERER, La Paz University Hospital, 28046 Madrid, Spain.
  • Sánchez-Cazorla E; Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
  • Gómez-Cano MLÁ; Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.
  • Delgado-Mora L; Clinical Bioinformatics Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, CIBERER, La Paz University Hospital, 28046 Madrid, Spain.
  • Noval S; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
  • Vallespín E; Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
Int J Mol Sci ; 24(14)2023 Jul 13.
Article em En | MEDLINE | ID: mdl-37511188

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Exoma Limite: Child / Female / Humans / Male Idioma: En Revista: Int J Mol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha País de publicação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Exoma Limite: Child / Female / Humans / Male Idioma: En Revista: Int J Mol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha País de publicação: Suíça