Associated Papers
Efanesoctocog Alfa Prophylaxis in a Patient With Combined Mild Hemophilia A and Type 1 von Willebrand Disease.
Uwaezuoke D et al.
Pediatric Blood & Cancer, 2026
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers.
Ho SKL et al.
American Journal of Medical Genetics. Part A, 2024
Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders.
Kim HH et al.
Human Genomics, 2024
Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.
Shi M et al.
Genes, 2021
Genetic causes of haemophilia in women and girls.
Miller CH et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Splicing analysis of 26 F8 nucleotide variations using a minigene assay.
Jourdy Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Haemophilia A: the consequences of de novo mutations. Two case reports.
Zarrilli F et al.
Blood Transfusion = Trasfusione Del Sangue, 2018
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations.
Zimmermann MA et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013
Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations.
Riccardi F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
Haemophilia A mutations in the UK: results of screening one-third of the population.
Green PM et al.
British Journal of Haematology, 2008
Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene.
El-Maarri O et al.
Journal of Thrombosis and Haemostasis : Jth, 2005
[Value of several genetic markers in detecting heterozygous carriers of a gene for hemophilia A].
Tokarev IuN et al.
Problemy Gematologii I Perelivaniia Krovi, 1977