Publications:

Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.

Pediatric Nephrology (Berlin, Germany)

Falcone, Maria Pia MP; Pritchard-Jones, Kathryn K; Brok, Jesper J; Mifsud, William W; Williams, Richard D RD; Nakata, Kayo K; Tugnait, Suzanne S; Al-Saadi, Reem R; Side, Lucy L; Anderson, John J; Duncan, Catriona C; Marks, Stephen D SD; Bockenhauer, Detlef D; Chowdhury, Tanzina T

Publication Date: 2022-04

Variant appearance in text: HR: 1399C>T

PubMed Link: 34608521

Variant Present in the following documents:

• 467_2021_Article_5125.pdf

View BVdb publication page

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.

Journal Of The American Heart Association

Portero, Vincent V; Le Scouarnec, Solena S; Es-Salah-Lamoureux, Zeineb Z; Burel, Sophie S; Gourraud, Jean-Baptiste JB; Bonnaud, Stéphanie S; Lindenbaum, Pierre P; Simonet, Floriane F; Violleau, Jade J; Baron, Estelle E; Moreau, Eléonore E; Scott, Carol C; Chatel, Stéphanie S; Loussouarn, Gildas G; O'Hara, Thomas T; Mabo, Philippe P; Dina, Christian C; Le Marec, Hervé H; Schott, Jean-Jacques JJ; Probst, Vincent V; Baró, Isabelle I; Marionneau, Céline C; Charpentier, Flavien F; Redon, Richard R

Publication Date: 2016-06-10

Variant appearance in text: HR: 1399C>T

PubMed Link: 27287695

Variant Present in the following documents:

• JAH3-5-e003122.pdf
• JAH3-5-e003122-s001.pdf

View BVdb publication page