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
A liquid-like organelle at the root of motile ciliopathy [PDF]
Boulgakov, Alexander A +7 more
core +1 more source
Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies. [PDF]
Rushforth R +7 more
europepmc +1 more source
Efficacy of Semaglutide in Pediatric Patients With Bardet-Biedl Syndrome and Alström Syndrome. [PDF]
Dauleh H, Mohammed I, Hussain K.
europepmc +1 more source
Novel OFD1 Mutation Results in Unusually Early-Onset Polycystic Kidney Disease. [PDF]
Jones N, Nguyen M, Le D, Hanna R.
europepmc +1 more source
Progressive Retinal Degeneration and Juvenile Nephronophthisis in a Patient with Autosomal Recessive Ciliopathy: A Case Report. [PDF]
Pericak JM, Chin EK, Almeida DRP.
europepmc +1 more source
Ciliopathies : molecular and genetic basis for Ahi1 function in retinal degeneration
Carrie M Louie
openalex +1 more source
Focal adhesion-related non-ciliary functions of CEP290. [PDF]
Matsuo K +13 more
europepmc +1 more source
A Practical Guide to Genetic Eye Conditions for Paediatricians. [PDF]
Lin R +5 more
europepmc +1 more source

