Results 221 to 230 of about 12,876 (273)

Renal insufficiency caused by <i>TMEM216</i> gene mutation: Case Report. [PDF]

Front Med (Lausanne)
Sun L, Xu M, Deng X, Liu X.
europepmc   +1 more source

Ciliopathies : molecular and genetic basis for Ahi1 function in retinal degeneration

, 2010
Carrie M Louie
openalex   +1 more source

Phenotypic Spectrum of <i>KATNIP</i>-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature. [PDF]

Genes (Basel)
Tedesco MG, Donati I, Romeo C, Dal Bo S, Nardini C, Innoceta AM, Parmeggiani G, Patanè A, Graziano C.   +8 more
europepmc   +1 more source

Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.

Kidney Blood Press Res
Secondulfo F, Del Vecchio Blanco F, Capolongo G, Piluso G, Nigro V, Perna AF, Capasso G, Zacchia M.   +7 more
europepmc   +1 more source

Network-based framework for studying etiology and phenotype diversity in primary ciliopathies

Aarts E, Laman Trip D, Neatu R, Martin C, Riley B, Kraus A, Green A, Al-Hamed M, Armstrong R, Sayer J, Bachmann-Gagescu R, Beltrao P.   +11 more
europepmc   +1 more source

A Case of Siblings with End-Stage Kidney Disease and Retinal Degeneration Suggestive of Partial Alström Syndrome.

Nephron
Shinkawa K, Ishii A, Kimura T, Toriu N, Nakagawa N, Wada T, Sakai K, Endo S, Yokoi H, Matsubara T, Kosaki K, Kosugi S, Yanagita M.   +12 more
europepmc   +1 more source

Editorial: Distinct phenotype but same genotype: hints for the diversity of phenotypes in ciliopathies

Sayer JA, Omran Mamdouh H., Zietkiewicz E   +2 more
openalex