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Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.
Morgan, Anna; Lenarduzzi, Stefania; Cappellani, Stefania; Pecile, Vanna; Morgutti, Marcello; Orzan, Eva; Ghiselli, Sara; Ambrosetti, Umberto; Brumat, Marco; Gajendrarao, Poornima; La Bianca, Martina; Faletra, Flavio; Grosso, Enrico; Sirchia, Fabio; Sensi, Alberto; Graziano, Claudio; Seri, Marco; Gasparini, Paolo; Girotto, Giorgia.
Afiliação
  • Morgan A; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
  • Lenarduzzi S; IRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
  • Cappellani S; IRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
  • Pecile V; IRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
  • Morgutti M; IRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
  • Orzan E; IRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
  • Ghiselli S; IRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
  • Ambrosetti U; Audiologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Brumat M; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
  • Gajendrarao P; IRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
  • La Bianca M; IRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
  • Faletra F; IRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
  • Grosso E; Medical Genetics Unit, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.
  • Sirchia F; IRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
  • Sensi A; Medical Genetics Unit, Department of Clinical Pathology, Azienda Unità Sanitaria Locale (AUSL) della Romagna, Cesena, Italy.
  • Graziano C; Unit of Medical Genetics, S. Orsola-Malpighi Hospital, Bologna, Italy.
  • Seri M; Unit of Medical Genetics, S. Orsola-Malpighi Hospital, Bologna, Italy.
  • Gasparini P; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
  • Girotto G; IRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
Front Genet ; 9: 681, 2018.
Article em En | MEDLINE | ID: mdl-30622556
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Risk_factors_studies Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Risk_factors_studies Idioma: En Ano de publicação: 2018 Tipo de documento: Article