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A novel MED12 mutation: Evidence for a fourth phenotype.
Prontera, Paolo; Ottaviani, Valentina; Rogaia, Daniela; Isidori, Ilenia; Mencarelli, Amedea; Malerba, Natascia; Cocciadiferro, Dario; Rolph, Pfundt; Stangoni, Gabriela; Vulto-van Silfhout, Anneke; Merla, Giuseppe.
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  • Prontera P; Medical Genetics Unit, Hospital "Santa Maria della Misericordia", Perugia, Italy.
  • Ottaviani V; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Rogaia D; Medical Genetics Unit, Hospital "Santa Maria della Misericordia", Perugia, Italy.
  • Isidori I; Medical Genetics Unit, Hospital "Santa Maria della Misericordia", Perugia, Italy.
  • Mencarelli A; Medical Genetics Unit, Hospital "Santa Maria della Misericordia", Perugia, Italy.
  • Malerba N; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Cocciadiferro D; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Rolph P; Ph.D. Program in Experimental and Regenerative Medicine, University of Foggia, Foggia, Italy.
  • Stangoni G; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  • Vulto-van Silfhout A; Medical Genetics Unit, Hospital "Santa Maria della Misericordia", Perugia, Italy.
  • Merla G; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Am J Med Genet A ; 170(9): 2377-82, 2016 09.
Article en En | MEDLINE | ID: mdl-27312080
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Complejo Mediador / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Italia
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Complejo Mediador / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Italia