Publications:

Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.

Hemasphere

Atiq, Ferdows F; Boender, Johan J; van Heerde, Waander L WL; Tellez Garcia, Juan M JM; Schoormans, Selene C SC; Krouwel, Sandy S; Cnossen, Marjon H MH; Laros-van Gorkom, Britta A P BAP; de Meris, Joke J; Fijnvandraat, Karin K; van der Bom, Johanna G JG; Meijer, Karina K; van Galen, Karin P M KPM; Eikenboom, Jeroen J; Leebeek, Frank W G FWG

Publication Date: 2022-06

Variant appearance in text: VWF: G1573S

PubMed Link: 35747851

Variant Present in the following documents:

• Main text
• hs9-6-e718.pdf

View BVdb publication page

Reevaluation of von Willebrand disease diagnosis in a Croatian paediatric cohort combining bleeding scores, phenotypic laboratory assays and next generation sequencing: a pilot study.

Biochemia Medica

Lapić, Ivana I; Radić Antolic, Margareta M; Dejanović Bekić, Sara S; Coen-Herak, Désirée D; Bilić, Ernest E; Rogić, Dunja D; Zadro, Renata R

Publication Date: 2022-02-15

Variant appearance in text: VWF: 4717G>A; Gly1573Ser

PubMed Link: 35210927

Variant Present in the following documents:

• Main text
• bm-32-1-010707.pdf

View BVdb publication page