Browsing by Author "Freson, K"
Now showing items 1-3 of 3
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The Human Phenotype Ontology in 2017
Koehler, S; Vasilevsky, NA; Engelstad, M; Foster, E; McMurry, J; Ayme, S; Baynam, G; Bello, SM; Boerkoel, CF; Boycott, KM (2017-01-04) -
Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.
Chan, MV; Hayman, MA; Sivapalaratnam, S; Crescente, M; Allan, HE; Edin, ML; Zeldin, DC; Milne, GL; Stephens, J; Greene, D (2020-04-16)We have identified a rare missense variant on chromosome 9, position 125145990 (GRCh37), in exon 8 in PTGS1 (the gene encoding cyclo-oxygenase 1, COX-1, the target of anti-thrombotic aspirin therapy). We report that in the ... -
Illustrated State‐of‐the‐Art Capsules of the ISTH 2021 Congress
Krishnaswamy, S; Ageno, W; Arabi, Y; Barbui, T; Cannegieter, S; Carrier, M; Cleuren, AC; Collins, P; Panicot‐Dubois, L; Freedman, JE (2021-07-16)