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Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp MC, Alessi MC, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux MF, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F. Savoia A, et al. Hum Mutat. 2014 Sep;35(9):1033-45. doi: 10.1002/humu.22607. Epub 2014 Jul 15. Hum Mutat. 2014. PMID: 24934643 Review.
Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC.
Gresele P, Orsini S, Noris P, Falcinelli E, Alessi MC, Bury L, Borhany M, Santoro C, Glembotsky AC, Cid AR, Tosetto A, De Candia E, Fontana P, Guglielmini G, Pecci A; BAT-VAL study investigators. Gresele P, et al. J Thromb Haemost. 2020 Mar;18(3):732-739. doi: 10.1111/jth.14683. Epub 2019 Dec 16. J Thromb Haemost. 2020. PMID: 31750621 Free article.
Inherited macrothrombocytopenias.
Rabbolini DJ, Morel-Kopp MC, Stevenson W, Ward CM. Rabbolini DJ, et al. Semin Thromb Hemost. 2014 Oct;40(7):774-84. doi: 10.1055/s-0034-1387922. Epub 2014 Aug 31. Semin Thromb Hemost. 2014. PMID: 25173502
94 results