DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 02 · Volume 03 · June 2014 DOI: 10.1055/s-005-29733 Ciliopathies

Guest Editorial

  • 047
    Mans, Dorus A.; Arts, Heleen H.:

    Medical genetics of ciliopathies

    • Review Article

  • 049
    Schmidts, Miriam:

    Clinical genetics and pathobiology of ciliary chondrodysplasias

  • 065
    Szymanska, Katarzyna; Hartill, Verity L.; Johnson, Colin A.:

    Unraveling the genetics of Joubert and Meckel-Gruber syndromes

  • 079
    de Vries, Tamar I.; van Haelst, Mieke M.:

    Ciliary disturbances in syndromal and non-syndromal obesity

  • 089
    Guay-Woodford, Lisa M.:

    Autosomal recessive polycystic kidney disease: The prototype of the hepato-renal fibrocystic diseases

  • 103
    Srivastava, Shalabh; Sayer, John A.:

    Nephronophthisis

  • 115
    Paff, Tamara; Daniels, Johannes M.A.; Pals, Gerard; Haarman, Eric G.:

    Primary ciliary dyskinesia: From diagnosis to molecular mechanisms

  • 129
    Klasson, Timothy D.; Giles, Rachel H.:

    The role of the cilium in hereditary tumor predisposition syndromes