Seneste publikationer Vis alle (18) »

1. E-pub ahead of print

   Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

   Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

2. Udgivet

   Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

   Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

3. Udgivet

   Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

   Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review