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Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.
Skauli, Nadia; Wallace, Sean; Chiang, Samuel C C; Barøy, Tuva; Holmgren, Asbjørn; Stray-Pedersen, Asbjørg; Bryceson, Yenan T; Strømme, Petter; Frengen, Eirik; Misceo, Doriana.
Afiliação
  • Skauli N; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway. nadia.skauli@medisin.uio.no.
  • Wallace S; Faculty of Medicine, University of Oslo, 0450 Oslo, Norway. nadia.skauli@medisin.uio.no.
  • Chiang SC; Department of Clinical Neurosciences for Children, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, 0450 Oslo, Norway. s.c.wallace@medisin.uio.no.
  • Barøy T; Center for Hematology and Regenerative Medicine (HERM), Department of Medicine, Karolinska University Hospital Huddinge, 14157 Stockholm, Sweden. samuel.chiang-cern-cher@ki.se.
  • Holmgren A; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway. tuva.baroy@medisin.uio.no.
  • Stray-Pedersen A; Faculty of Medicine, University of Oslo, 0450 Oslo, Norway. tuva.baroy@medisin.uio.no.
  • Bryceson YT; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway. asbjorn.holmgren@medisin.uio.no.uio.no.
  • Strømme P; Faculty of Medicine, University of Oslo, 0450 Oslo, Norway. asbjorn.holmgren@medisin.uio.no.uio.no.
  • Frengen E; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway. astraype@ous-hf.no.
  • Misceo D; Center for Hematology and Regenerative Medicine (HERM), Department of Medicine, Karolinska University Hospital Huddinge, 14157 Stockholm, Sweden. yenan.bryceson@ki.se.
Genes (Basel) ; 7(12)2016 Nov 29.
Article em En | MEDLINE | ID: mdl-27916860
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Genes (Basel) Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Noruega
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Genes (Basel) Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Noruega