Results 81 to 90 of about 3,874 (165)

Response to the Letter to the Editor Entitled "From Variant of Unknown Significance to Likely Pathogenic: Adult-Onset - Nephronophthisis Linked to NPHP4 p.T680M". [PDF]

Kidney Int Rep
König JC, Dahmer-Heath M, Konrad M.
europepmc   +1 more source

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant. [PDF]

NPJ Genom Med
Jean MM, Yunis A, Elbaz-Biton T, Dolgin V, Narkis G, Michaelovsky A, Eskin-Schwartz M, Tsitrina AA, Agam N, Poleg T, Safran A, Freund O, Hadar N, Levy D, Shelef I, El Amour K, Flusser H, Birk OS.   +17 more
europepmc   +1 more source

Early-onset kidney failure in a girl with autosomal dominant tubulointerstitial kidney disease due to a de novo UMOD variant. [PDF]

CEN Case Rep
Tomori S, Miura K, Shirai Y, Hashimoto T, Hada I, Kurayama R, Morisada N, Nozu K, Hattori M.   +8 more
europepmc   +1 more source

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

The pedfix technique: a new minimally invasive method of peritoneal dialysis catheter insertion with secure fixation to the abdominal wall-a preliminary experience. [PDF]

Pediatr Surg Int
Cascio S, Cascio M, Abdelraheem I.
europepmc   +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

Severe Chronic Kidney Disease Presenting as Asymptomatic Normocytic Anemia in a Child. [PDF]

Cureus
Benaka Hebbar V, Patil P, Savadkar A.
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