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Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Almoguera, Berta; Li, Jiankang; Fernandez-San Jose, Patricia; Liu, Yichuan; March, Michael; Pellegrino, Renata; Golhar, Ryan; Corton, Marta; Blanco-Kelly, Fiona; López-Molina, Maria Isabel; García-Sandoval, Blanca; Guo, Yiran; Tian, Lifeng; Liu, Xuanzhu; Guan, Liping; Zhang, Jianguo; Keating, Brendan; Xu, Xun; Hakonarson, Hakon; Ayuso, Carmen.
Afiliação
  • Almoguera B; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America.
  • Li J; BGI-Shenzhen, Shenzhen 518083, China.
  • Fernandez-San Jose P; Department of Genetics and Genomics, IIS-Fundacion Jimenez Diaz, 28040, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Liu Y; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America.
  • March M; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America.
  • Pellegrino R; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America.
  • Golhar R; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America.
  • Corton M; Department of Genetics and Genomics, IIS-Fundacion Jimenez Diaz, 28040, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Blanco-Kelly F; Department of Genetics and Genomics, IIS-Fundacion Jimenez Diaz, 28040, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • López-Molina MI; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain; Department of Ophthalmology, Fundacion Jimenez Diaz, 28040, Madrid, Spain.
  • García-Sandoval B; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain; Department of Ophthalmology, Fundacion Jimenez Diaz, 28040, Madrid, Spain.
  • Guo Y; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America.
  • Tian L; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America.
  • Liu X; BGI-Shenzhen, Shenzhen 518083, China.
  • Guan L; BGI-Shenzhen, Shenzhen 518083, China.
  • Zhang J; BGI-Shenzhen, Shenzhen 518083, China.
  • Keating B; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America.
  • Xu X; BGI-Shenzhen, Shenzhen 518083, China.
  • Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America.
  • Ayuso C; Department of Genetics and Genomics, IIS-Fundacion Jimenez Diaz, 28040, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
PLoS One ; 10(7): e0133624, 2015.
Article em En | MEDLINE | ID: mdl-26197217
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 2015 Tipo de documento: Article