Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
Genotype vs laboratory phenotype correlation of defects in natural anticoagulants in patients with venous thromboembolism.
Van Laer C et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
40436275 (PubMed )
Supplement: 1-s2.0-S1538783625003356-mmc2.xlsx › supp_table_S2
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 › ST3.5
Phenotypic plasticity and genetic control in colorectal cancer evolution.
Househam J et al.
Nature, 2022
36289336 (PubMed )
Supplement: 41586_2022_5311_MOESM9_ESM.xlsx › Fig._2c
Genetic Variants in the Protein S ( PROS1 ) Gene and Protein S Deficiency in a Danish Population.
Larsen OH et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2021
Recurrent PROC and novel PROS1 mutations in Vietnamese patients diagnosed with idiopathic deep venous thrombosis.
Do MD et al.
International Journal of Laboratory Hematology, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
BMPR1A mutations in juvenile polyposis affect cellular localization.
Howe JR et al.
The Journal of Surgical Research, 2013
Genotype and laboratory and clinical phenotypes of protein s deficiency.
Duebgen S et al.
American Journal of Clinical Pathology, 2012
Protein S inherited qualitative deficiency: novel mutations and phenotypic influence.
Alhenc-Gelas M et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
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