Associated Papers
Novel exomic rare variants associated with venous thrombosis.
Deguchi H et al.
British Journal of Haematology, 2020
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
Zarrei M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
28771244 (PubMed )
Supplement: gim201783x4.xlsx › de_novo
What is currently known about the genetics of venous thromboembolism at the dawn of next generation sequencing technologies.
Trégouët DA et al.
British Journal of Haematology, 2018
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