Résultat de recherche

Cilia in hereditary cerebral anomalies.

Human IFT52 mutations uncover a novel role for the protein in microtubule...

Ciliary kinesins beyond IFT: Cilium length, disassembly, cargo transport...

The copy number variation landscape of congenital anomalies of the kidney...

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney...

Cell type-specific regulation of ciliary transition zone assembly in v...

Casein kinase 1ε and 1α as novel players in polycystic kidney disease...

Functional characterization of tektin-1 in motile cilia and evidence for...

A human patient-derived cellular model of Joubert syndrome reveals ciliary...

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital...

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

KIF13B establishes a CAV1-enriched microdomain at the ciliary transition...

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Ne...

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through...

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition...

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule...

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subty...

Human C-terminal CUBN variants associate with chronic proteinuria and normal...

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis...