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Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.
Orenstein, N; Weiss, K; Oprescu, S N; Shapira, R; Kidron, D; Vanagaite-Basel, L; Antonellis, A; Muenke, M.
  • Orenstein N; Department of Pediatric Genetics, Schneider Children Medical Center of Israel, Petah Tikva, Israel.
  • Weiss K; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Oprescu SN; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Shapira R; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.
  • Kidron D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Vanagaite-Basel L; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Antonellis A; Department of Pathology, Meir Hospital, Kfar Saba, Israel.
  • Muenke M; Department of Pediatric Genetics, Schneider Children Medical Center of Israel, Petah Tikva, Israel.
Clin Genet ; 91(6): 913-917, 2017 Jun.
Article en En | MEDLINE | ID: mdl-27891590
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Colestasis / Retardo del Crecimiento Fetal / Isoleucina-ARNt Ligasa Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male / Newborn Idioma: En Año: 2017 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Colestasis / Retardo del Crecimiento Fetal / Isoleucina-ARNt Ligasa Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male / Newborn Idioma: En Año: 2017 Tipo del documento: Article