Associated Papers
Clinical and Genetic Heterogeneity of Factor XI Deficiency: Insights from a Southern Italian Cohort.
Santacroce R et al.
International Journal of Molecular Sciences, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
De la Rosa SO et al.
Epilepsia, 2025
40116760 (PubMed )
Supplement: EPI-66-2379-s001.xlsx › Data
Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype-phenotype relationship.
Tiscia GL et al.
Human Genome Variation, 2017
SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
Kim HJ et al.
Plos One, 2013
Thrombin generation in patients with factor XI deficiency and clinical bleeding risk.
Rugeri L et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
Clinical and Genetic Characterization of Factor XI Deficiency in Jordan: Identification of a Novel Splice-Site Mutation Associated with Severe Deficiency.
Al-Fararjeh F et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0
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