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1. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. Issue 4 (9th September 2005)

3. A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes. Issue 1 (December 2015)

5. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). Issue 1 (1st July 2009)

7. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Issue 8 (19th June 2015)