Your browser doesn't support javascript.
loading
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
Rautengarten, Carsten; Quarrell, Oliver W; Stals, Karen; Caswell, Richard C; De Franco, Elisa; Baple, Emma; Burgess, Nadia; Jokhi, Roobin; Heazlewood, Joshua L; Offiah, Amaka C; Ebert, Berit; Ellard, Sian.
Afiliação
  • Rautengarten C; School of BioSciences, The University of Melbourne, Victoria 3010, Australia.
  • Quarrell OW; Department of Clinical Genetics, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.
  • Stals K; Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Caswell RC; University of Exeter School of Medicine, Barrack Road, Exeter EX2 5DW, UK.
  • De Franco E; Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Baple E; Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Burgess N; University of Exeter School of Medicine, Barrack Road, Exeter EX2 5DW, UK.
  • Jokhi R; Department of Histology, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield UK. S10 2TH, UK.
  • Heazlewood JL; Department of Obstetrics and Gynaecology, Sheffield Teaching Hospitals, Jessop Wing Tree Root Walk, Sheffield S10 2SF, UK.
  • Offiah AC; School of BioSciences, The University of Melbourne, Victoria 3010, Australia.
  • Ebert B; University of Sheffield, Academic Unit of Child Health, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK.
  • Ellard S; School of BioSciences, The University of Melbourne, Victoria 3010, Australia.
Hum Mol Genet ; 28(21): 3543-3551, 2019 11 01.
Article em En | MEDLINE | ID: mdl-31423530
Assuntos
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Proteínas de Transporte de Monossacarídeos / Doenças Fetais Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Austrália País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Proteínas de Transporte de Monossacarídeos / Doenças Fetais Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Austrália País de publicação: Reino Unido