Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies. [PDF]
Aresi C +8 more
europepmc +1 more source
Loss of primary cilia in late pituitary organogenesis does not cause endocrine dysfunction. [PDF]
Byun K +4 more
europepmc +1 more source
Primary cilium disassembly - from mechanisms to roles in physiology and disease. [PDF]
Ott CM +2 more
europepmc +1 more source
The centrosome-cilium-centriolar satellite axis in neurodegenerative diseases. [PDF]
Sahin U, Firat-Karalar EN.
europepmc +1 more source
CiliaKB: A comprehensive knowledge base for cilia-associated genes. [PDF]
Liu CJ +6 more
europepmc +1 more source
Prenatal molecularly supported diagnosis of a fetus with urinary malformation caused by novel compound heterozygous variants in the <i>FAM149B1</i> gene. [PDF]
Liu J +10 more
europepmc +1 more source
From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation. [PDF]
Milheiro J +5 more
europepmc +1 more source
Correction to "A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies". [PDF]
europepmc +1 more source

