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Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
Simsek-Kiper, Pelin Ozlem; Taskiran, Ekim; Kosukcu, Can; Arslan, Umut Ece; Cormier-Daire, Valérie; Gonc, Nazli; Ozon, Alev; Alikasifoglu, Ayfer; Kandemir, Nurgun; Utine, Gulen Eda; Alanay, Yasemin; Alikasifoglu, Mehmet; Boduroglu, Koray.
Afiliação
  • Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Taskiran E; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Kosukcu C; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Arslan UE; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Turkey.
  • Cormier-Daire V; Department of Health Research, Institute of Public Health, Hacettepe University, Ankara, Turkey.
  • Gonc N; Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France.
  • Ozon A; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Alikasifoglu A; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Kandemir N; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Utine GE; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Alanay Y; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Alikasifoglu M; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Boduroglu K; Department of Pediatric Genetics, Acibadem University Faculty of Medicine, Istanbul, Turkey.
Am J Med Genet A ; 179(7): 1157-1172, 2019 07.
Article em En | MEDLINE | ID: mdl-30980518
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coluna Vertebral / Proteínas do Citoesqueleto / Proteínas Culina / Nanismo / Proteína Morfogenética Óssea 2 / Estudos de Associação Genética / Hipotonia Muscular / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Turquia
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coluna Vertebral / Proteínas do Citoesqueleto / Proteínas Culina / Nanismo / Proteína Morfogenética Óssea 2 / Estudos de Associação Genética / Hipotonia Muscular / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Turquia