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Results: 1-20 |
Results: 20
Signal-transduction defects in T cells
Authors: Grunebaum, E Roifman, CM
Citation: E. Grunebaum et Cm. Roifman, Signal-transduction defects in T cells, CL R ALL IM, 20(1), 2001, pp. 27-42
A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree
Authors: Grunebaum, E Arpaia, E MacKenzie, JJ Fitzpatrick, J Ray, PN Roifman, CM
Citation: E. Grunebaum et al., A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree, J MED GENET, 38(6), 2001, pp. 409-411
Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient
Authors: Dalal, I Grunebaum, E Cohen, A Roifman, CM
Citation: I. Dalal et al., Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient, CLIN GENET, 59(6), 2001, pp. 430-437
Immune function in patients with Shwachman-Diamond syndrome
Authors: Dror, Y Ginzberg, H Dalal, I Cherepanov, V Downey, G Durie, P Roifman, CM Freedman, MH
Citation: Y. Dror et al., Immune function in patients with Shwachman-Diamond syndrome, BR J HAEM, 114(3), 2001, pp. 712-717
Human interleukin-2 receptor alpha deficiency
Authors: Roifman, CM Dadi, HK
Citation: Cm. Roifman et Hk. Dadi, Human interleukin-2 receptor alpha deficiency, IMMUNOL ALL, 20(1), 2000, pp. 39
CD8 lymphocytopenia caused by ZAP-70 deficiency
Authors: Sharfe, N Arpaia, E Roifman, CM
Citation: N. Sharfe et al., CD8 lymphocytopenia caused by ZAP-70 deficiency, IMMUNOL ALL, 20(1), 2000, pp. 77
Immunodeficiency caused by purine nucleoside phosphorylase deficiency
Authors: Cohen, A Grunebaum, E Arpaia, E Roifman, CM
Citation: A. Cohen et al., Immunodeficiency caused by purine nucleoside phosphorylase deficiency, IMMUNOL ALL, 20(1), 2000, pp. 143
Matched unrelated bone marrow transplantation for combined immunodeficiency
Authors: Dalal, I Reid, B Doyle, J Freedman, M Calderwood, S Saunders, F Roifman, CM
Citation: I. Dalal et al., Matched unrelated bone marrow transplantation for combined immunodeficiency, BONE MAR TR, 25(6), 2000, pp. 613-621
Human IL-2 receptor alpha chain deficiency
Authors: Roifman, CM
Citation: Cm. Roifman, Human IL-2 receptor alpha chain deficiency, PEDIAT RES, 48(1), 2000, pp. 6-11
Mitochondrial basis for immune deficiency: Evidence from purine nucleosidephosphorylase-deficient mice
Authors: Arpaia, E Benveniste, P Di Cristofano, A Gu, YP Dalal, I Kelly, S Hershfield, M Pandolfi, PP Roifman, CM Cohen, A
Citation: E. Arpaia et al., Mitochondrial basis for immune deficiency: Evidence from purine nucleosidephosphorylase-deficient mice, J EXP MED, 191(12), 2000, pp. 2197-2207
Reply to the letter by Carpenter et al. - 'Novel' immunodeficiency syndrome may be previously described entity
Authors: Roifman, CM
Citation: Cm. Roifman, Reply to the letter by Carpenter et al. - 'Novel' immunodeficiency syndrome may be previously described entity, CLIN GENET, 57(1), 2000, pp. 91-92
Haemophagocytic lymphohistiocytosis in X-linked severe combined immunodeficiency
Authors: Grunebaum, E Zhang, J Dadi, H Roifman, CM
Citation: E. Grunebaum et al., Haemophagocytic lymphohistiocytosis in X-linked severe combined immunodeficiency, BR J HAEM, 108(4), 2000, pp. 834-837
A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency
Authors: Roifman, CM Zhang, JY Chitayat, D Sharfe, N
Citation: Cm. Roifman et al., A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency, BLOOD, 96(8), 2000, pp. 2703-2707
A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency
Authors: Roifman, CM Zhang, JY Chitayat, D Sharfe, N
Citation: Cm. Roifman et al., A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency, BLOOD, 96(8), 2000, pp. 2803-2807
Signal transduction - Lessons learned from rare pediatric immunodeficiencies
Authors: Cohen, SY Roifman, CM
Citation: Sy. Cohen et Cm. Roifman, Signal transduction - Lessons learned from rare pediatric immunodeficiencies, IMMUNOL ALL, 19(2), 1999, pp. 291
Anaphylaxis and epinephrine auto-injector training: Who will teach the teachers?
Authors: Grouhi, M Alshehri, M Hummel, D Roifman, CM
Citation: M. Grouhi et al., Anaphylaxis and epinephrine auto-injector training: Who will teach the teachers?, J ALLERG CL, 104(1), 1999, pp. 190-193
Anaphylactic reaction to oral cefaclor in a child
Authors: Grouhi, M Hummel, D Roifman, CM
Citation: M. Grouhi et al., Anaphylactic reaction to oral cefaclor in a child, PEDIATRICS, 103(4), 1999, pp. E501-E502
Long-term remission for disseminated Mycobacterium avium-intracellulare complex associated with antibody deficiency
Authors: Grouhi, M Wang, E Reid, B Roifman, CM
Citation: M. Grouhi et al., Long-term remission for disseminated Mycobacterium avium-intracellulare complex associated with antibody deficiency, PEDIATRICS, 103(1), 1999, pp. E131-E133
Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome
Authors: Roifman, CM
Citation: Cm. Roifman, Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome, CLIN GENET, 55(2), 1999, pp. 103-109
Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp
Authors: Cohen, S Dadi, H Shaoul, E Sharfe, N Roifman, CM
Citation: S. Cohen et al., Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp, BLOOD, 93(6), 1999, pp. 2013-2024
Risultati: 1-20 |