Results 131 to 140 of about 5,140 (191)

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

Bridging the gap: an emerging link between tubulinopathies and ciliopathies. [PDF]

NPJ Genom Med
Steiman S, Omer S, Pastore S, Ivakine EA.   +3 more
europepmc   +1 more source

A novel <i>XPNPEP3</i> gene variant manifesting as rhabdomyolysis and exercise intolerance. [PDF]

J Neuromuscul Dis
Staedler K, Nectoux J, Metay C, Lermine A, Villar-Quiles RN, Evangelista T, Labasse C, Lacène E, Stojkovic T.   +8 more
europepmc   +1 more source

Juvenile nephropathy resembling human nephronophthisis-medullary cystic kidney disease in a 9-month-old domestic shorthaired cat. [PDF]

J Small Anim Pract
Goody N, Poldy J, Malbon A, Morrison T, Montanes-Sancho I, Dancer S, Gunn Moore D.   +6 more
europepmc   +1 more source

Bronchiectasis in a child with a homozygous <i>DCDC2</i> gene mutation: A case report. [PDF]

J Taibah Univ Med Sci
AlSaedi KS, Mazi AA.
europepmc   +1 more source

A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report. [PDF]

Case Rep Genet
Dahlan RA, Fairoozy RH.
europepmc   +1 more source

WCN25-1253 SMALL MOLECULE DRUG TREATMENTS FOR INHERITED KIDNEY DISEASE: NEPHRONOPHTHISIS

Kidney International Reports
Praveen Dhondurao Sudhindar, Elisa molinari, Colin Johnson, Colin Miles, John Sayer   +4 more
doaj   +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

Ten tips for ordering, interpreting, and communicating genetic test results in nephrology. [PDF]

Clin Kidney J
Selvathesan N, Costigan CS, Bahadori A, Lemaire M.   +3 more
europepmc   +1 more source