Associated Papers
Systematic phenotype and genotype characterization of Moebius syndrome.
Webb BD et al.
Genetics in Medicine Open, 2025
40662098 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_13
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-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.
Fidalgo T et al.
Thrombosis and Haemostasis, 2016
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
Westbury SK et al.
Genome Medicine, 2015
25949529 (PubMed )
Supplement: 13073_2015_151_MOESM11_ESM.pdf
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