Your browser doesn't support javascript.
loading
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
Daich Varela, Malena; Jani, Priyam; Zein, Wadih M; D'Souza, Precilla; Wolfe, Lynne; Chisholm, Jennifer; Zalewski, Christopher; Adams, David; Warner, Blake M; Huryn, Laryssa A; Hufnagel, Robert B.
Afiliação
  • Daich Varela M; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
  • Jani P; National Institute of Dental and Craniofacial Research, NIH, Bethesda, Maryland, USA.
  • Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
  • D'Souza P; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Wolfe L; Undiagnosed Diseases Program, Common Fund, NIH, Bethesda, Maryland, USA.
  • Chisholm J; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, Maryland, USA.
  • Zalewski C; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, Maryland, USA.
  • Adams D; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Warner BM; Undiagnosed Diseases Program, Common Fund, NIH, Bethesda, Maryland, USA.
  • Huryn LA; National Institute of Dental and Craniofacial Research, NIH, Bethesda, Maryland, USA.
  • Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
Am J Med Genet C Semin Med Genet ; 184(3): 618-630, 2020 09.
Article em En | MEDLINE | ID: mdl-32866347
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Peroxissômicos / Amelogênese Imperfeita / ATPases Associadas a Diversas Atividades Celulares / Perda Auditiva Neurossensorial / Proteínas de Membrana / Unhas Malformadas Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Peroxissômicos / Amelogênese Imperfeita / ATPases Associadas a Diversas Atividades Celulares / Perda Auditiva Neurossensorial / Proteínas de Membrana / Unhas Malformadas Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article