Associated Papers
Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.
Berry JG et al.
Ebiomedicine, 2025
41202470 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.
Suchon P et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
Boyle L et al.
Hgg Advances, 2021
33880452 (PubMed )
Supplement: mmc2.xlsx › Table_S2
Factor XI gene mutations in factor XI deficient patients of the Czech Republic.
Castaman G et al.
American Journal of Hematology, 2008
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.
Mitchell M et al.
Human Mutation, 2006
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