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NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Carli, Diana; Giorgio, Elisa; Pantaleoni, Francesca; Bruselles, Alessandro; Barresi, Sabina; Riberi, Evelise; Licciardi, Francesco; Gazzin, Andrea; Baldassarre, Giuseppina; Pizzi, Simone; Niceta, Marcello; Radio, Francesca C; Molinatto, Cristina; Montin, Davide; Calvo, Pier L; Ciolfi, Andrea; Fleischer, Nicole; Ferrero, Giovanni B; Brusco, Alfredo; Tartaglia, Marco.
Afiliación
  • Carli D; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.
  • Giorgio E; Department of Medical Sciences, University of Torino, Torino, Italy.
  • Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.
  • Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Barresi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.
  • Riberi E; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.
  • Licciardi F; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.
  • Gazzin A; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.
  • Baldassarre G; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.
  • Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.
  • Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.
  • Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.
  • Molinatto C; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.
  • Montin D; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.
  • Calvo PL; Pediatric Gastroenterology Unit, Città della Salute e della Scienza University Hospital, Torino, Italy.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.
  • Fleischer N; FDNA Inc, Boston, Massachusetts.
  • Ferrero GB; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.
  • Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy.
  • Tartaglia M; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, Italy.
Hum Mutat ; 40(6): 721-728, 2019 06.
Article en En | MEDLINE | ID: mdl-30825388
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Mutación Silenciosa / Secuenciación del Exoma / Proteínas de Neoplasias Tipo de estudio: Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 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 Asunto principal: Anomalías Múltiples / Mutación Silenciosa / Secuenciación del Exoma / Proteínas de Neoplasias Tipo de estudio: Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Italia