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A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.
Straussberg, Rachel; Marom, Daphna; Sanado-Inbar, Esther; Lakovsky, Yaniv; Horev, Gadi; Shalev, Stavit A; Lev, Dorit; Lerman-Sagie, Tally; Leshinsky-Silver, Esther.
Afiliação
  • Straussberg R; Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel rachels2@clalit.org.il.
  • Marom D; Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikvah, Israel Pediatrics A, Schneider Children's Medical Center of Israel, Petach Tikva, Isr
  • Sanado-Inbar E; Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel.
  • Lakovsky Y; Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Department of Radiology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
  • Horev G; Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Department of Radiology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
  • Shalev SA; Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel The Genetics Institute, Ha'emek Medical Center, Afula and the Rappaport Faculty of Medicine, Technion, Haifa, Israel.
  • Lev D; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
  • Lerman-Sagie T; Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
  • Leshinsky-Silver E; Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
J Child Neurol ; 30(4): 490-5, 2015 Mar.
Article em En | MEDLINE | ID: mdl-25246298
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Judeus / Doenças Autoimunes do Sistema Nervoso / Proteínas Monoméricas de Ligação ao GTP / Mutação / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Infant / Male Idioma: En Revista: J Child Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Israel País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Judeus / Doenças Autoimunes do Sistema Nervoso / Proteínas Monoméricas de Ligação ao GTP / Mutação / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Infant / Male Idioma: En Revista: J Child Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Israel País de publicação: Estados Unidos