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Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara, Elena; Paolacci, Stefano; D'Esposito, Fabiana; Abeshi, Andi; Ziccardi, Lucia; Falsini, Benedetto; Colombo, Leonardo; Iarossi, Giancarlo; Pilotta, Alba; Boccone, Loredana; Guerri, Giulia; Monica, Marica; Marta, Balzarini; Maltese, Paolo Enrico; Buzzonetti, Luca; Rossetti, Luca; Bertelli, Matteo.
Afiliación
  • Manara E; Magi Euregio, Bolzano, Italy. elena.manara@assomagi.org.
  • Paolacci S; Magi Euregio, Bolzano, Italy.
  • D'Esposito F; Magi Euregio, Bolzano, Italy.
  • Abeshi A; Imperial College Ophthalmic Research Unit, Western Eye Hospital, Imperial College Healthcare NHS Trust, London, UK.
  • Ziccardi L; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, Federico II University, Naples, Italy.
  • Falsini B; Magi Euregio, Bolzano, Italy.
  • Colombo L; IRCCS - Fondazione Bietti, Rome, Italy.
  • Iarossi G; Institute of Ophthalmology, Università Cattolica del Sacro Cuore, Rome, Italy.
  • Pilotta A; Fondazione Policlinico Universitario "A. Gemelli", IRCCS, Rome, Italy.
  • Boccone L; Department of Ophthalmology, San Paolo Hospital, University of Milan, Milan, Italy.
  • Guerri G; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy.
  • Monica M; Special Unit of Auxoendocrinology, Diabetology and Pediatric Genetics, University of Brescia, Spedali Civili di Brescia, Brescia, Italy.
  • Marta B; Microcitemic Regional Hospital, Brotzu Hospital, Cagliari, Italy.
  • Maltese PE; Magi Euregio, Bolzano, Italy.
  • Buzzonetti L; Microcitemic Regional Hospital, Brotzu Hospital, Cagliari, Italy.
  • Rossetti L; Microcitemic Regional Hospital, Brotzu Hospital, Cagliari, Italy.
  • Bertelli M; MAGI'S Lab, Rovereto, Italy.
Ital J Pediatr ; 45(1): 72, 2019 Jun 13.
Article en En | MEDLINE | ID: mdl-31196119
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Bardet-Biedl / Mutación Tipo de estudio: Guideline Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Ital J Pediatr Asunto de la revista: PEDIATRIA Año: 2019 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Bardet-Biedl / Mutación Tipo de estudio: Guideline Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Ital J Pediatr Asunto de la revista: PEDIATRIA Año: 2019 Tipo del documento: Article País de afiliación: Italia