Heleen H Arts

发表

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Carolyn M Hutter, Edwin W Rubel, Michael Dorschner, 2008, American journal of human genetics.

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

I. V. van Rooij, E. Bongers, R. Roepman, 2018, Pediatric Nephrology.

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Christian Gilissen, Alexander Hoischen, Han G Brunner, 2010, American journal of human genetics.