Results 171 to 180 of about 8,333 (256)

Nephronophthisis and Retinitis Pigmentosa (Senior-Loken Syndrome) After Living-Donor Kidney Transplantation: Twelve-Year Follow-Up in a Young Woman. [PDF]

J Med Cases
Matsuo T, Onishi Y, Morinaga H, Wada J, Tanaka T, Araki M.   +5 more
europepmc   +1 more source

NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis

, 2008
Edgar A. Otto, Melissa L. Trapp, Ulla T. Schultheiß, Juliana Helou, Lynne M. Quarmby, Friedhelm Hildebrandt   +5 more
openalex   +1 more source

NEK8, a NIMA-family protein kinase at the core of the ciliary INV complex. [PDF]

Cell Commun Signal
Roig J.
europepmc   +1 more source

CILIOPATIAS E DOENÇA RENAL [PDF]

, 2012
Francisco Fabião Fernandes Correia Gouveia
core  

The Evolving Experience and Outcomes of Pediatric Kidney Transplant in Abu Dhabi, UAE (2010-2024). [PDF]

Int J Nephrol
Beyyumi E, Al Dhaheri W, Ahmad N, Zaman MB, Khasawneh EA.   +4 more
europepmc   +1 more source

Current insights into renal ciliopathies: what can genetics teach us? [PDF]

core   +1 more source

Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy [PDF]

, 2015

core   +1 more source

Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: A single center experience

, 2012
Neveen A. Soliman, Edgar A. Otto, SusanJ Allen, Maha Sheba, Ghada Gawdat, Friedhelm Hildebrandt, MarwaM Nabhan, AhmedM Badr, Sawsan Fadda, Hassan El-Kiky   +9 more
openalex   +1 more source

Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China. [PDF]

BMC Nephrol
Zhou C, Xiao Y, Xie H, Wei X, Wang J.
europepmc   +1 more source

Nephronophthisis: A review of genotype–phenotype correlation [PDF]

, 2018
Fenglan Luo, Yuhong Tao
openalex   +1 more source