Publications:

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).

Orphanet Journal Of Rare Diseases

Schuermans, Nika N; Hemelsoet, Dimitri D; Terryn, Wim W; Steyaert, Sanne S; Van Coster, Rudy R; Coucke, Paul J PJ; Steyaert, Wouter W; Callewaert, Bert B; Bogaert, Elke E; Verloo, Patrick P; Vanlander, Arnaud V AV; Debackere, Elke E; Ghijsels, Jody J; LeBlanc, Pontus P; Verdin, Hannah H; Naesens, Leslie L; Haerynck, Filomeen F; Callens, Steven S; Dermaut, Bart B; Poppe, Bruce B; ,

Publication Date: 2022-05-23

Variant appearance in text: PKD1: Cys3081Arg

PubMed Link: 35606766

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2365.pdf

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Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Journal Of The American Society Of Nephrology : Jasn

Rossetti, Sandro S; Hopp, Katharina K; Sikkink, Robert A RA; Sundsbak, Jamie L JL; Lee, Yean Kit YK; Kubly, Vickie V; Eckloff, Bruce W BW; Ward, Christopher J CJ; Winearls, Christopher G CG; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2012-05

Variant appearance in text: PKD1: 9241T>C; Cys3081Arg

PubMed Link: 22383692

Variant Present in the following documents:

• Main text

View BVdb publication page