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Results: 1-9 |
Results: 9
Very short telomeres in the peripheral blood of patients with X-linked andautosomal dyskeratosis congenita
Authors: Vulliamy, TJ Knight, SW Mason, PJ Dokal, I
Citation: Tj. Vulliamy et al., Very short telomeres in the peripheral blood of patients with X-linked andautosomal dyskeratosis congenita, BL CELL M D, 27(2), 2001, pp. 353-357
Very short telomeres in the peripheral blood of patients with X-linked andautosomal dyskeratosis congenita
Authors: Vulliamy, TJ Knight, SW Mason, PJ Dokal, I
Citation: Tj. Vulliamy et al., Very short telomeres in the peripheral blood of patients with X-linked andautosomal dyskeratosis congenita, BL CELL M D, 27(2), 2001, pp. 353-357
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis
Authors: Knight, SW Vulliamy, TJ Morgan, B Devriendt, K Mason, PJ Dokal, I
Citation: Sw. Knight et al., Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis, HUM GENET, 108(4), 2001, pp. 299-303
Glucose-6-phosphate dehydrogenase deficiency
Authors: Mehta, A Mason, PJ Vulliamy, TJ
Citation: A. Mehta et al., Glucose-6-phosphate dehydrogenase deficiency, BEST P R C, 13(1), 2000, pp. 21-38
Human hexose-6-phosphate dehydrogenase (Glucose 1-dehydrogenase) encoded at 1p36: Coding sequence and expression
Authors: Mason, PJ Stevens, D Diez, A Knight, SW Scopes, DA Vulliamy, TJ
Citation: Pj. Mason et al., Human hexose-6-phosphate dehydrogenase (Glucose 1-dehydrogenase) encoded at 1p36: Coding sequence and expression, BL CELL M D, 25(2), 1999, pp. 30-37
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
Authors: Knight, SW Heiss, NS Vulliamy, TJ Aalfs, CM McMahon, C Richmond, P Jones, A Hennekam, RCM Poustka, A Mason, PJ Dokal, I
Citation: Sw. Knight et al., Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1, BR J HAEM, 107(2), 1999, pp. 335-339
Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections
Authors: Roos, D van Zwieten, R Wijnen, JT Gomez-Gallego, F de Boer, M Stevens, D Pronk-Admiraal, CJ de Rijk, T van Noorden, CJF Weening, RS Vulliamy, TJ Ploem, JE Mason, PJ Bautista, JM Khan, PM Beutler, E
Citation: D. Roos et al., Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections, BLOOD, 94(9), 1999, pp. 2955-2962
Dyskeratosis congenita caused by a 3 ' deletion: Germline and somatic mosaicism in a female carrier
Authors: Vulliamy, TJ Knight, SW Heiss, NS Smith, OP Poustka, A Dokal, I Mason, PJ
Citation: Tj. Vulliamy et al., Dyskeratosis congenita caused by a 3 ' deletion: Germline and somatic mosaicism in a female carrier, BLOOD, 94(4), 1999, pp. 1254-1260
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene
Authors: Knight, SW Heiss, NS Vulliamy, TJ Greschner, S Stavrides, G Pai, GS Lestringant, G Varma, N Mason, PJ Dokal, I Poustka, A
Citation: Sw. Knight et al., X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene, AM J HU GEN, 65(1), 1999, pp. 50-58
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