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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. Among authors: rosenberg n. Hum Mutat. 2014 Sep;35(9):1033-45. doi: 10.1002/humu.22607. Epub 2014 Jul 15. Hum Mutat. 2014. PMID: 24934643 Review.
Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3).
Peretz H, Rosenberg N, Landau M, Usher S, Nelson EJ, Mor-Cohen R, French DL, Mitchell BW, Nair SC, Chandy M, Coller BS, Srivastava A, Seligsohn U. Peretz H, et al. Among authors: rosenberg n. Hum Mutat. 2006 Apr;27(4):359-69. doi: 10.1002/humu.20304. Hum Mutat. 2006. PMID: 16463284
SMYD1 is the underlying gene for the AnWj-negative blood group phenotype.
Yahalom V, Pillar N, Zhao Y, Modan S, Fang M, Yosephi L, Asher O, Shinar E, Celniker G, Resnik-Wolf H, Brantz Y, Hauschner H, Rosenberg N, Cheng L, Shomron N, Pras E. Yahalom V, et al. Among authors: rosenberg n. Eur J Haematol. 2018 Oct;101(4):496-501. doi: 10.1111/ejh.13133. Epub 2018 Aug 3. Eur J Haematol. 2018. PMID: 29956848
1,028 results