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Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.
Rajagopalan, Ramakrishnan; Grochowski, Christopher M; Gilbert, Melissa A; Falsey, Alexandra M; Coleman, Karlene; Romero, Rene; Loomes, Kathleen M; Piccoli, David A; Devoto, Marcella; Spinner, Nancy B.
Afiliación
  • Rajagopalan R; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Grochowski CM; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Gilbert MA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Falsey AM; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Coleman K; Marcus Autism Center, Children's Healthcare of Atlanta, Atlanta, Georgia.
  • Romero R; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia.
  • Loomes KM; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia, and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Piccoli DA; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia, and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Devoto M; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Spinner NB; Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Am J Med Genet A ; 170(3): 750-3, 2016 Mar.
Article en En | MEDLINE | ID: mdl-26697755
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Quinasas / Hermanos / Cardiopatías Congénitas / Heterocigoto / Fallo Renal Crónico / Hepatopatías / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Quinasas / Hermanos / Cardiopatías Congénitas / Heterocigoto / Fallo Renal Crónico / Hepatopatías / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article