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Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
Fontes, Marshall I B; Santos, Ana P; Molck, Miriam C; Simioni, Milena; Nascimento, Diogo L L; Andrade, Ana K M; Rosenberg, Carla; Krepischi, Ana C V; Appenzeller, Simone; Monlleó, Isabella L; Gil-da-Silva-Lopes, Vera Lúcia.
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  • Fontes MI; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.
  • Santos AP; Medical Genetics Sector, State University of Health Sciences of Alagoas, Maceió, Alagoas, Brazil.
  • Molck MC; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.
  • Simioni M; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.
  • Nascimento DL; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.
  • Andrade AK; Medical Genetics Sector, State University of Health Sciences of Alagoas, Maceió, Alagoas, Brazil.
  • Rosenberg C; Clinical Genetics Service, Faculty of Medicine, University Hospital, Federal University of Alagoas-UFAL, Maceió, Alagoas, Brazil.
  • Krepischi AC; Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, São Paulo, Brazil.
  • Appenzeller S; Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, São Paulo, Brazil.
  • Monlleó IL; Department of Medical Clinical, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.
  • Gil-da-Silva-Lopes VL; Clinical Genetics Service, Faculty of Medicine, University Hospital, Federal University of Alagoas-UFAL, Maceió, Alagoas, Brazil.
Am J Med Genet A ; 170(3): 766-72, 2016 Mar.
Article en En | MEDLINE | ID: mdl-26638882
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 16 / Cromosomas Humanos Par 22 / Deleción Cromosómica / Estudios de Asociación Genética / Duplicación Cromosómica Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Brasil
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 16 / Cromosomas Humanos Par 22 / Deleción Cromosómica / Estudios de Asociación Genética / Duplicación Cromosómica Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Brasil