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A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype.
Agakidou, Eleni; Agakidis, Charalampos; Kambouris, Marios; Printza, Nicoleta; Farini, Maria; Vourda, Elina; Gerou, Spyridon; Sarafidis, Kosmas.
Afiliación
  • Agakidou E; 1 Department of Neonatology, Aristotle University of Thessaloniki, Ippokration General Hospital, Thessaloniki, Greece.
  • Agakidis C; 1 Department of Pediatrics, Aristotle University of Thessaloniki, Ippokration General Hospital, Thessaloniki, Greece.
  • Kambouris M; Division of Genetics, Department of Pathology and Laboratory Medicine, Sidra Medicine Hospital, Doha, Qatar.
  • Printza N; 1 Department of Pediatrics, Aristotle University of Thessaloniki, Ippokration General Hospital, Thessaloniki, Greece.
  • Farini M; 1 Department of Neonatology, Aristotle University of Thessaloniki, Ippokration General Hospital, Thessaloniki, Greece.
  • Vourda E; 1 Department of Pediatrics, Aristotle University of Thessaloniki, Ippokration General Hospital, Thessaloniki, Greece.
  • Gerou S; Analysis Medical S.A. Diagnostic-Research Clinics, Thessaloniki, Greece.
  • Sarafidis K; 1 Department of Neonatology, Aristotle University of Thessaloniki, Ippokration General Hospital, Thessaloniki, Greece.
Case Rep Genet ; 2020: 8872294, 2020.
Article en En | MEDLINE | ID: mdl-33029437
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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Case Rep Genet Año: 2020 Tipo del documento: Article País de afiliación: Grecia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Case Rep Genet Año: 2020 Tipo del documento: Article País de afiliación: Grecia