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Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.
Burris, Ashley M; Ballew, Bari J; Kentosh, Joshua B; Turner, Clesson E; Norton, Scott A; Giri, Neelam; Alter, Blanche P; Nellan, Anandani; Gamper, Christopher; Hartman, Kip R; Savage, Sharon A.
Afiliação
  • Burris AM; San Antonio Military Medical Center, San Antonio, Texas.
  • Ballew BJ; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
  • Kentosh JB; Walter Reed National Military Medical Center, Bethesda, Maryland.
  • Turner CE; Walter Reed National Military Medical Center, Bethesda, Maryland.
  • Norton SA; Children's National Medical Center, Washington, District of Columbia.
  • Giri N; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
  • Alter BP; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
  • Nellan A; Division of Pediatric Oncology, Department of Oncology, Johns Hopkins University, Baltimore, Maryland.
  • Gamper C; Division of Pediatric Oncology, Department of Oncology, Johns Hopkins University, Baltimore, Maryland.
  • Hartman KR; Walter Reed National Military Medical Center, Bethesda, Maryland.
  • Savage SA; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland. Electronic address: savagesh@mail.nih.gov.
Pediatr Neurol ; 56: 62-68.e1, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26810774

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Disceratose Congênita / Exorribonucleases / Retardo do Crescimento Fetal / Deficiência Intelectual / Microcefalia / Mutação Tipo de estudo: Observational_studies / Prognostic_studies / Screening_studies Limite: Adult / Humans / Male Idioma: En Revista: Pediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Disceratose Congênita / Exorribonucleases / Retardo do Crescimento Fetal / Deficiência Intelectual / Microcefalia / Mutação Tipo de estudo: Observational_studies / Prognostic_studies / Screening_studies Limite: Adult / Humans / Male Idioma: En Revista: Pediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2016 Tipo de documento: Article