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A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman.
Palombo, Flavia; Al-Wardy, Nadia; Ruscone, Guido Alberto Gnecchi; Oppo, Manuela; Kindi, Mohammed Nasser Al; Angius, Andrea; Al Lamki, Khalsa; Girotto, Giorgia; Giangregorio, Tania; Benelli, Matteo; Magi, Alberto; Seri, Marco; Gasparini, Paolo; Cucca, Francesco; Sazzini, Marco; Al Khabori, Mazin; Pippucci, Tommaso; Romeo, Giovanni.
Afiliación
  • Palombo F; Medical Genetics Unit, Department of Medical and Surgical Sciences, Polyclinic Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.
  • Al-Wardy N; College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
  • Ruscone GA; Laboratory of Molecular Anthropology & Centre for Genome Biology, Department BiGeA University of Bologna, Bologna, Italy.
  • Oppo M; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy.
  • Kindi MN; Dipartimento di Scienze Biomediche, University of Sassari, Sassari, Italy.
  • Angius A; College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
  • Al Lamki K; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy.
  • Girotto G; Center for Advanced Studies, Research, and Development in Sardinia (CRS4), Parco Scientifico e Tecnologico della Sardegna, Pula, Italy.
  • Giangregorio T; College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
  • Benelli M; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
  • Magi A; Division of Experimental Genetics, Sidra Medical and Research Center, Doha, Qatar.
  • Seri M; Medical Genetics Unit, Department of Medical and Surgical Sciences, Polyclinic Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.
  • Gasparini P; Department Laboratory, Careggi University Hospital, Firenze, Italy.
  • Cucca F; Department of Experimental and Clinical Medicine, University of Florence, Firenze, Italy.
  • Sazzini M; Medical Genetics Unit, Department of Medical and Surgical Sciences, Polyclinic Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.
  • Al Khabori M; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
  • Pippucci T; Division of Experimental Genetics, Sidra Medical and Research Center, Doha, Qatar.
  • Romeo G; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy.
J Hum Genet ; 62(2): 259-264, 2017 Feb.
Article en En | MEDLINE | ID: mdl-27734841
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura / Miosinas / Efecto Fundador / Sordera Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Humans / Middle aged País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura / Miosinas / Efecto Fundador / Sordera Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Humans / Middle aged País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Italia