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Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
Katzaki, Eleni; Pescucci, Chiara; Uliana, Vera; Papa, Filomena Tiziana; Ariani, Francesca; Meloni, Ilaria; Priolo, Manuela; Selicorni, Angelo; Milani, Donatella; Fischetto, Rita; Celle, Maria Elena; Grasso, Rita; Dallapiccola, Bruno; Brancati, Francesco; Bordignon, Marta; Tenconi, Romano; Federico, Antonio; Mari, Francesca; Renieri, Alessandra; Longo, Ilaria.
Afiliación
  • Katzaki E; Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
  • Pescucci C; Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
  • Uliana V; Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
  • Papa FT; Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
  • Ariani F; Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
  • Meloni I; Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
  • Priolo M; Medical Genetics Hospital of Reggio Calabria, Reggio Calabria, Italy.
  • Selicorni A; Pediatric Unit, University of Milan, Milan, Italy.
  • Milani D; Pediatric Unit, University of Milan, Milan, Italy.
  • Fischetto R; U.O. Metabolic Disease-Medical Genetics, P.O.Giovanni XXIII-A.O.U. Policlinico Consorziale, Bari, Italy.
  • Celle ME; Child Neuropsychiatric Unit, G. Gaslini Institute, University of Genova, Genova, Italy.
  • Grasso R; IRCCS MEDEA, Bosisio Parini, Lecco, Italy.
  • Dallapiccola B; IRCCS CSS, Mendel Institute, Rome, Italy.
  • Brancati F; Department of Experimental Medicine and Pathology, La Sapienza University, Rome, Italy.
  • Bordignon M; IRCCS CSS, Mendel Institute, Rome, Italy.
  • Tenconi R; Clinical Genetics and Epidemiology, University of Padova, Padova, Italy.
  • Federico A; Clinical Genetics and Epidemiology, University of Padova, Padova, Italy.
  • Mari F; Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy.
  • Renieri A; Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
  • Longo I; Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy. renieri@unisi.it.
J Hum Genet ; 52(12): 1011-1017, 2007.
Article en En | MEDLINE | ID: mdl-17990063
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anomalías Múltiples / Discapacidades del Desarrollo / Proteínas de Transporte Vesicular / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2007 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anomalías Múltiples / Discapacidades del Desarrollo / Proteínas de Transporte Vesicular / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2007 Tipo del documento: Article País de afiliación: Italia