Hamìt Özyürek

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Heleen H. Arts, Dan Doherty, Sylvia E. C. van Beersum et al. · Nature Genetics · 2007 · 321 citations

Life Sciences, Genetics, Molecular Genetics +8

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps et al. · Journal of Medical Genetics · 2015 · 297 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

Nicholas T. Gorden, Heleen H. Arts, Melissa A. Parisi et al. · The American Journal of Human Genetics · 2008 · 230 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

Mutations in 3 genes (<i>MKS3</i>, <i>CC2D2A</i> and <i>RPGRIP1L</i>) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

D Doherty, Melissa A. Parisi, Laura S. Finn et al. · Journal of Medical Genetics · 2009 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

PYRIDOXINE AND PYRIDOSTIGMINE TREATMENT IN VINCRISTINE-INDUCED NEUROPATHY

Hamìt Özyürek, Hande Türker, Mehtap Akbalik et al. · Pediatric Hematology and Oncology · 2007 · 44 citations

Pharmacy, Neurology, Pharmacology +17