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Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
Dentici, Maria Lisa; Di Pede, Alessandra; Lepri, Francesca Romana; Gnazzo, Maria; Lombardi, Mary Haywood; Auriti, Cinzia; Petrocchi, Stefano; Pisaneschi, Elisa; Bellacchio, Emanuele; Capolino, Rossella; Braguglia, Annabella; Angioni, Adriano; Dotta, Andrea; Digilio, Maria Cristina; Dallapiccola, Bruno.
Afiliación
  • Dentici ML; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Di Pede A; Neonatal Intensive Care Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Lepri FR; Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Gnazzo M; Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Lombardi MH; Neonatal Intensive Care Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Auriti C; Neonatal Intensive Care Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Petrocchi S; Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Pisaneschi E; Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bellacchio E; Scientific Directory, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Capolino R; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Braguglia A; Neonatal Intensive Care Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Angioni A; Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Dotta A; Neonatal Intensive Care Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Digilio MC; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Dallapiccola B; Scientific Directory, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Arch Dis Child ; 100(2): 158-64, 2015 Feb.
Article en En | MEDLINE | ID: mdl-25281733

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Enfermedades Vestibulares / Cara / Enfermedades Hematológicas Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Arch Dis Child Año: 2015 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Enfermedades Vestibulares / Cara / Enfermedades Hematológicas Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Arch Dis Child Año: 2015 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido