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- 2021
-
Mark
Identification of F8 rearrangements in carrier and non-carrier mothers of haemophilia A patients
(
- Contribution to journal › Letter
- 2020
-
Mark
Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR
(
- Contribution to journal › Article
-
Mark
Detection of F8 int22h inversions using digital droplet PCR and mile-post assays
(
- Contribution to journal › Article
- 2019
-
Mark
Targeted re-sequencing of F8, F9 and VWF : Characterization of Ion Torrent data and clinical implications for mutation screening
(
- Contribution to journal › Article
- 2018
-
Mark
Genetic Variation in the Syntaxin-Binding Protein STXBP5 in Type 1 von Willebrand Disease Patients
(
- Contribution to journal › Article
- 2016
-
Mark
Origin of mutation in sporadic cases of severe haemophilia A in Sweden.
(
- Contribution to journal › Article
- 2012
-
Mark
Investigation of disease-associated factors in haemophilia A patients without detectable mutations.
(
- Contribution to journal › Article
- 2007
-
Mark
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)
(
- Contribution to journal › Article