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Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires.
Frizinsky, Shirly; Rechavi, Erez; Barel, Ortal; Lee, Yu Nee; Simon, Amos J; Lev, Atar; Stauber, Tali; Adam, Etai; Somech, Raz.
Afiliación
  • Frizinsky S; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Rechavi E; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Barel O; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Lee YN; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Simon AJ; The Wohl Institute for Translational Medicine and Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel.
  • Lev A; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Stauber T; The Wohl Institute for Translational Medicine and Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel.
  • Adam E; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Somech R; The Wohl Institute for Translational Medicine and Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel.
Front Pediatr ; 10: 883173, 2022.
Article en En | MEDLINE | ID: mdl-35967585

Texto completo: 1 Colección: 01-internacional Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Pediatr Año: 2022 Tipo del documento: Article País de afiliación: Israel

Texto completo: 1 Colección: 01-internacional Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Pediatr Año: 2022 Tipo del documento: Article País de afiliación: Israel