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Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches.
Di Resta, Chiara; Spiga, Ivana; Presi, Silvia; Merella, Stefania; Pipitone, Giovanni Battista; Manitto, Maria Pia; Querques, Giuseppe; Parodi, Maurizio Battaglia; Ferrari, Maurizio; Carrera, Paola.
Afiliación
  • Di Resta C; Vita-Salute San Raffaele University, Milan, Italy.
  • Spiga I; Unit of Genomics for Human Disease Diagnosis, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Presi S; Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy.
  • Merella S; Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy.
  • Pipitone GB; Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy.
  • Manitto MP; Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy.
  • Querques G; Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Parodi MB; Medical Retina & Imaging Unit, Department of Ophthalmology IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy.
  • Ferrari M; Department of Ophthalmology, Vita-Salute San Raffaele University, Milan, Italy.
  • Carrera P; Vita-Salute San Raffaele University, Milan, Italy.
EJIFCC ; 29(1): 15-25, 2018 Apr.
Article en En | MEDLINE | ID: mdl-29765283
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: EJIFCC Año: 2018 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: EJIFCC Año: 2018 Tipo del documento: Article País de afiliación: Italia