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Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.
Gandin, Ilaria; Faletra, Flavio; Faletra, Francesca; Carella, Massimo; Pecile, Vanna; Ferrero, Giovanni B; Biamino, Elisa; Palumbo, Pietro; Palumbo, Orazio; Bosco, Paolo; Romano, Corrado; Belcaro, Chiara; Vozzi, Diego; d'Adamo, Adamo P.
  • Gandin I; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
  • Faletra F; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo," Trieste, Italy.
  • Faletra F; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo," Trieste, Italy.
  • Carella M; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Pecile V; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo," Trieste, Italy.
  • Ferrero GB; Department of Pediatrics, University of Torino, Torino, Italy.
  • Biamino E; Department of Pediatrics, University of Torino, Torino, Italy.
  • Palumbo P; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Palumbo O; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Bosco P; Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, Italy.
  • Romano C; Unit of Pediatrics and Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
  • Belcaro C; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
  • Vozzi D; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo," Trieste, Italy.
  • d'Adamo AP; 1] Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy [2] Institute for Maternal and Child Health, IRCCS "Burlo Garofolo," Trieste, Italy.
Genet Med ; 17(5): 396-9, 2015 May.
Article en En | MEDLINE | ID: mdl-25232855

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos del Conocimiento / Homocigoto / Discapacidad Intelectual / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos del Conocimiento / Homocigoto / Discapacidad Intelectual / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article