Results 121 to 130 of about 6,344 (210)

Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report. [PDF]

J Med Case Rep
Demirtas İ, Bek SG.
europepmc   +1 more source

Biosynthesis of complement C4 messenger RNA in normal human kidney [PDF]

, 1989
Bevec, Dorian, Felber, E., Feucht, Helmut E., Lang, M., Riethmüller, Gert, Weiss, Elisabeth H., Zwirner, Jörg   +6 more
core   +1 more source

From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation. [PDF]

Clin Nephrol Case Stud
Milheiro J, Pinto R, Veiga C, Dias A, Pêgo C, Lemos S.   +5 more
europepmc   +1 more source

Renaming Medullary Cystic Kidney Disease: A Review of Semantic Nomenclature. [PDF]

Cureus
Kuang K, Vatsa S, Ramakrishnan R, Shenoy A, Shoja MM, Al-Eyd G.   +5 more
europepmc   +1 more source

Systematic review of outcomes reported in clinical research on nephronophthisis: how do they align with SONG Kids priorities? [PDF]

Pediatr Nephrol
Dahmer-Heath M, Optenhövel S, Hechler T, Konrad M, König J.   +4 more
europepmc   +1 more source

Molecular mechanisms of <i>TTC21B</i> gene mutations in nephronophthisis type 12 and genetic prevention through PGT. [PDF]

Front Genet
Deng K, Li J, Hu X, Wei H, Wang C, Cheng Q, Jiang Y, Cai L, Tang D, Cao G, Wang X.   +10 more
europepmc   +1 more source

Granulomatous nephropathy: have you thought about genetics? [PDF]

Pediatr Nephrol
Vedrine E, Bessenay L, Philipponnet C, Dancer M, Bertholet-Thomas A.   +4 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

Targeting GLP-1 Signaling Ameliorates Cystogenesis in a Zebrafish Model of Nephronophthisis. [PDF]

Int J Mol Sci
Eckert P, Nöller M, Müller M, Haas R, Ruf J, Franz H, Moos K, Yu JA, Zhao D, Xie W, Boerries M, Walz G, Yakulov TA.   +12 more
europepmc   +1 more source

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