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Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.
Abulí, Anna; Costa-Roger, Mar; Codina-Solà, Marta; Valenzuela, Irene; Leno-Colorado, Jordi; Rovira-Moreno, Eulàlia; Cueto-González, Anna; Fernández-Álvarez, Paula; García-Arumí, Elena; Cuscó, Ivon; Tizzano, Eduardo F.
Afiliación
  • Abulí A; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain anna.abuli@vallhebron.cat.
  • Costa-Roger M; Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
  • Codina-Solà M; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Valenzuela I; Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
  • Leno-Colorado J; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Rovira-Moreno E; Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
  • Cueto-González A; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Fernández-Álvarez P; Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
  • García-Arumí E; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Cuscó I; Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
  • Tizzano EF; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
J Med Genet ; 60(6): 540-546, 2023 06.
Article en En | MEDLINE | ID: mdl-36600615
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Raras Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: España
Texto completo
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PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Raras Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: España