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2002 2
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2007 5
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73 results

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Page 1
Did you mean asami yoshiki (1 results)?
Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants.
Baccelli F, Leardini D, Muratore E, Messelodi D, Bertuccio SN, Chiriaco M, Cancrini C, Conti F, Castagnetti F, Pedace L, Pession A, Yoshimi A, Niemeyer C, Tartaglia M, Locatelli F, Masetti R. Baccelli F, et al. Among authors: yoshimi a. Hum Genomics. 2022 Sep 19;16(1):40. doi: 10.1186/s40246-022-00414-y. Hum Genomics. 2022. PMID: 36123612 Free PMC article.
Second allogeneic stem cell transplantation can rescue a significant proportion of patients with JMML relapsing after first allograft.
Vinci L, Flotho C, Noellke P, Lebrecht D, Masetti R, de Haas V, De Moerloose B, Dworzak M, Hasle H, Güngör T, Starý J, Turkiewicz D, Ussowicz M, de Heredia CD, Buechner J, Jahnukainen K, Kallay K, Bodova I, Smith OP, Zecca M, Bresters D, Lang P, Masmas TN, Meisel R, Pichler H, Erlacher M, Göhring G, Locatelli F, Strahm B, Niemeyer CM, Yoshimi A. Vinci L, et al. Among authors: yoshimi a. Bone Marrow Transplant. 2023 May;58(5):607-609. doi: 10.1038/s41409-023-01942-4. Epub 2023 Feb 23. Bone Marrow Transplant. 2023. PMID: 36823455 Free PMC article. No abstract available.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Kapp FG, Kretschmer S, Beckmann CCA, Wäsch L, Molitor A, Carapito R, Schubert M, Lucas N, Conrad S, Poignant S, Isidor B, Rohlfs M, Kisaarslan AP, Schanze D, Zenker M, Schmitt-Graeff A, Strahm B, Peters A, Yoshimi A, Driever W, Zillinger T, Günther C, Maharana S, Guan K, Klein C, Ehl S, Niemeyer CM, Unal E, Bahram S, Hauck F, Lee-Kirsch MA, Speckmann C. Kapp FG, et al. Among authors: yoshimi a. Clin Immunol. 2023 Nov;256:109777. doi: 10.1016/j.clim.2023.109777. Epub 2023 Sep 22. Clin Immunol. 2023. PMID: 37741518
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Heeney MM, Berhe S, Campagna DR, Oved JH, Kurre P, Shaw PJ, Teo J, Shanap MA, Hassab HM, Glader BE, Shah S, Yoshimi A, Ameri A, Antin JH, Boudreaux J, Briones M, Dickerson KE, Fernandez CV, Farah R, Hasle H, Keel SB, Olson TS, Powers JM, Rose MJ, Shimamura A, Bottomley SS, Fleming MD. Heeney MM, et al. Among authors: yoshimi a. Hum Mutat. 2021 Nov;42(11):1367-1383. doi: 10.1002/humu.24267. Epub 2021 Aug 5. Hum Mutat. 2021. PMID: 34298585 Free PMC article. Review.
Association of unbalanced translocation der(1;7) with germline GATA2 mutations.
Kozyra EJ, Göhring G, Hickstein DD, Calvo KR, DiNardo CD, Dworzak M, de Haas V, Starý J, Hasle H, Shimamura A, Fleming MD, Inaba H, Lewis S, Hsu AP, Holland SM, Arnold DE, Mecucci C, Keel SB, Bertuch AA, Tawana K, Barzilai S, Hirabayashi S, Onozawa M, Lei S, Alaiz H, Andrikovics H, Betts D, Beverloo BH, Buechner J, Čermák M, Cervera J, Haus O, Jahnukainen K, Manola KN, Nebral K, Pasquali F, Tchinda J, Turkiewicz D, Van Roy N, Zemanova Z, Pastor VB, Strahm B, Noellke P, Niemeyer CM, Schlegelberger B, Yoshimi A, Wlodarski MW. Kozyra EJ, et al. Among authors: yoshimi a. Blood. 2021 Dec 9;138(23):2441-2445. doi: 10.1182/blood.2021012781. Blood. 2021. PMID: 34469508 Free PMC article. No abstract available.
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
Ramamoorthy S, Lebrecht D, Schanze D, Schanze I, Wieland I, Andrieux G, Metzger P, Hess M, Albert MH, Borkhardt A, Bresters D, Buechner J, Catala A, De Haas V, Dworzak M, Erlacher M, Hasle H, Jahnukainen K, Locatelli F, Masetti R, Stary J, Turkiewicz D, Vinci L, Wlodarski MW, Yoshimi A, Boerries M, Niemeyer CM, Zenker M, Flotho C. Ramamoorthy S, et al. Among authors: yoshimi a. Br J Haematol. 2024 Feb;204(2):595-605. doi: 10.1111/bjh.19190. Epub 2023 Nov 9. Br J Haematol. 2024. PMID: 37945316
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.
Erlacher M, Andresen F, Sukova M, Stary J, De Moerloose B, Bosch JVWT, Dworzak M, Seidel MG, Polychronopoulou S, Beier R, Kratz CP, Nathrath M, Frühwald MC, Göhring G, Bergmann AK, Mayerhofer C, Lebrecht D, Ramamoorthy S, Yoshimi A, Strahm B, Wlodarski MW, Niemeyer CM. Erlacher M, et al. Among authors: yoshimi a. Haematologica. 2024 Feb 1;109(2):422-430. doi: 10.3324/haematol.2023.283591. Haematologica. 2024. PMID: 37584291 Free PMC article.
73 results