Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies [PDF]
Elizabeth N. Schock+1 more
openalex +1 more source
Identification and bioinformatics analysis of cilia-associated gene families in <i>Euplotes amieti</i> (Ciliophora, Hypotrichia). [PDF]
Shen L+5 more
europepmc +1 more source
Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease. [PDF]
Serrano B, Savige J.
europepmc +1 more source
Nephronophthisis - A Genetic Cause of Ciliopathy [PDF]
Sanjeev Kumar Jain
openalex +1 more source
Investigating the Role of <i>B9D1</i> in Meckel-Gruber Syndrome: A Case Report and Comprehensive Literature Review. [PDF]
Campobasso G+11 more
europepmc +1 more source
X-box promoter motif searches: From C. elegans to humans to novel candidate ciliopathies [PDF]
Peter Swoboda
openalex +1 more source
CEP162: A critical regulator of ciliary transition zone assembly and its implications in ciliopathies. [PDF]
Yin J+7 more
europepmc +1 more source
Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of Interest [PDF]
Carsten Bergmann
openalex +1 more source
Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes. [PDF]
Toler S, Abrams K, Ward D.
europepmc +1 more source