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Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.
Eandi, Chiara M; Dallorto, Laura; Spinetta, Roberta; Micieli, Maria Pia; Vanzetti, Mario; Mariottini, Alessandro; Passerini, Ilaria; Torricelli, Francesca; Alovisi, Camilla; Marchese, Cristiana.
Affiliation
  • Eandi CM; Department of Surgical Sciences, Eye Clinic, Università degli Studi di Torino, Torino, 10122, Italy. ceandi@gmail.com.
  • Dallorto L; Department of Surgical Sciences, Eye Clinic, Università degli Studi di Torino, Torino, 10122, Italy.
  • Spinetta R; Department of Surgical Sciences, Eye Clinic, Università degli Studi di Torino, Torino, 10122, Italy.
  • Micieli MP; Low vision Unit, Ospedale Oftalmico Sperino Torino, Torino, 10122, Italy.
  • Vanzetti M; Inherited retinal dystrophies Unit, Azienda Ospedaliera Ordine Mauriziano Torino, Torino, 10128, Italy.
  • Mariottini A; Diagnostic Genetic Unit, AOU Careggi Firenze, Firenze, 50134, Italy.
  • Passerini I; Diagnostic Genetic Unit, AOU Careggi Firenze, Firenze, 50134, Italy.
  • Torricelli F; Diagnostic Genetic Unit, AOU Careggi Firenze, Firenze, 50134, Italy.
  • Alovisi C; Department of Surgical Sciences, Eye Clinic, Università degli Studi di Torino, Torino, 10122, Italy.
  • Marchese C; Inherited retinal dystrophies Unit, Azienda Ospedaliera Ordine Mauriziano Torino, Torino, 10128, Italy.
Sci Rep ; 7(1): 15681, 2017 11 15.
Article in En | MEDLINE | ID: mdl-29142287
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Extracellular Matrix Proteins / Myosins / Receptors, G-Protein-Coupled / Usher Syndromes Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Sci Rep Year: 2017 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Extracellular Matrix Proteins / Myosins / Receptors, G-Protein-Coupled / Usher Syndromes Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Sci Rep Year: 2017 Document type: Article Affiliation country: Country of publication: