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Ciliopathies: Coloring outside of the lines.
Strong, Alanna; Li, Dong; Mentch, Frank; Bedoukian, Emma; Hartung, Erum A; Meyers, Kevin; Skraban, Cara; Wen, Jessica; Medne, Livija; Glessner, Joseph; Watson, Deborah; Krantz, Ian; Hakonarson, Hakon.
Afiliação
  • Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Li D; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Mentch F; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Bedoukian E; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Hartung EA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Meyers K; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Skraban C; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Wen J; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Medne L; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Glessner J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Watson D; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Krantz I; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Hakonarson H; Division of Gastroenterology, Hepatology and Nutrition, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Am J Med Genet A ; 185(3): 687-694, 2021 03.
Article em En | MEDLINE | ID: mdl-33369054

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Chaperoninas / Proteínas do Citoesqueleto / Peptídeos e Proteínas de Sinalização Intracelular / Dineínas do Citoplasma / Ciliopatias / Proteínas Associadas aos Microtúbulos / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Chaperoninas / Proteínas do Citoesqueleto / Peptídeos e Proteínas de Sinalização Intracelular / Dineínas do Citoplasma / Ciliopatias / Proteínas Associadas aos Microtúbulos / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article