Résultat de recherche

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...

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary...

Endoplasmic reticulum-retained podocin mutants are massively degraded by...

Lysosomal Targeting of Cystinosin Requires AP-3.

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of...

Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlled...

Mouse models of Hirschsprung disease and other developmental disorders...