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Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.
Matsunami, Nori; Shanmugam, Hari; Baird, Lisa; Stevens, Jeff; Byrne, Janice L; Barnhart, Douglas C; Rau, Carrie; Feldkamp, Marcia L; Yoder, Bradley A; Leppert, Mark F; Yost, H Joseph; Brunelli, Luca.
Afiliação
  • Matsunami N; Departments of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah.
  • Shanmugam H; Department of Pediatrics (Neonatology), University of Utah School of Medicine, Salt Lake City, Utah.
  • Baird L; Departments of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah.
  • Stevens J; Departments of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah.
  • Byrne JL; Departments of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, Utah.
  • Barnhart DC; Division of Pediatric Surgery, Primary Children's Medical Center, University of Utah School of Medicine, Salt Lake City, Utah.
  • Rau C; Department of Pediatrics (Neonatology), University of Utah School of Medicine, Salt Lake City, Utah.
  • Feldkamp ML; Department of Pediatrics (Medical Genetics), University of Utah School of Medicine, Salt Lake City, Utah.
  • Yoder BA; Department of Pediatrics (Neonatology), University of Utah School of Medicine, Salt Lake City, Utah.
  • Leppert MF; Departments of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah.
  • Yost HJ; Department of Neurobiology & Anatomy and Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.
  • Brunelli L; Department of Pediatrics (Neonatology), University of Utah School of Medicine, Salt Lake City, Utah.
Birth Defects Res ; 110(7): 610-617, 2018 04 17.
Article em En | MEDLINE | ID: mdl-29570242
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Mutação em Linhagem Germinativa Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Birth Defects Res Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Mutação em Linhagem Germinativa Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Birth Defects Res Ano de publicação: 2018 Tipo de documento: Article