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Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.
Vardi, Iddo; Barel, Ortal; Sperber, Michal; Schvimer, Michael; Nunberg, Moran; Field, Michael; Ouahed, Jodie; Marek-Yagel, Dina; Werner, Lael; Haberman, Yael; Lahad, Avishay; Anikster, Yair; Rechavi, Gideon; Barshack, Iris; McElwee, Joshua J; Maranville, Joseph; Somech, Raz; Snapper, Scott B; Weiss, Batia; Shouval, Dror S.
Afiliação
  • Vardi I; Pediatric Gastroenterology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Sheba Road 2, 5262100, Tel Hashomer, Israel.
  • Barel O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Sperber M; Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel.
  • Schvimer M; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Nunberg M; Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel.
  • Field M; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Ouahed J; Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel.
  • Marek-Yagel D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Werner L; Institute of Pathology, Sheba Medical Center, Tel Hashomer, Israel.
  • Haberman Y; Pediatric Gastroenterology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Sheba Road 2, 5262100, Tel Hashomer, Israel.
  • Lahad A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Anikster Y; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA.
  • Rechavi G; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA.
  • Barshack I; Harvard Medical School, Boston, MA, USA.
  • McElwee JJ; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Maranville J; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Tel Hashomer, Israel.
  • Somech R; Pediatric Gastroenterology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Sheba Road 2, 5262100, Tel Hashomer, Israel.
  • Snapper SB; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Weiss B; Pediatric Gastroenterology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Sheba Road 2, 5262100, Tel Hashomer, Israel.
  • Shouval DS; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Dig Dis Sci ; 63(5): 1192-1199, 2018 05.
Article em En | MEDLINE | ID: mdl-29484573
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Helicases / Mutação de Sentido Incorreto / Diarreia Infantil / Retardo do Crescimento Fetal / Doenças do Cabelo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Infant Idioma: En Revista: Dig Dis Sci Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Israel
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Helicases / Mutação de Sentido Incorreto / Diarreia Infantil / Retardo do Crescimento Fetal / Doenças do Cabelo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Infant Idioma: En Revista: Dig Dis Sci Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Israel