Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Vulliamy, T J"'
Autor:
Vulliamy, T. J., D'Urso, M., Battistuzzi, G., Estrada, M., Foulkes, N. S., Martini, G., Calabro, V., Poggi, V., Giordano, R., Town, M., Luzzatto, L., Persico, M. G.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1988 Jul . 85(14), 5171-5175.
Externí odkaz:
https://www.jstor.org/stable/32381
Autor:
Vulliamy, T. J., Othman, A., Town, M., Nathwani, A., Falusi, A. G., Mason, P. J., Luzzatto, L.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1991 Oct 01. 88(19), 8568-8571.
Externí odkaz:
https://www.jstor.org/stable/2357981
Autor:
Knight, S. W., Heiss, N. S., Vulliamy, T. J., Aalfs, C. M., McMahon, C., Richmond, P., Jones, A., Hennekam, R. C., Poustka, A., Mason, P. J., Dokal, I.
Publikováno v:
British journal of haematology, 107(2), 335-339. Wiley-Blackwell
Hoyeraal-Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly, cerebellar-hypoplasia and growth retardation. Its pathogenesis is unknown. X-linked dyskeratosis conge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::9f4f7526d1d817fd92fb63acfc36dd64
https://pure.amc.nl/en/publications/unexplained-aplastic-anaemia-immunodeficiency-and-cerebellar-hypoplasia-hoyeraalhreidarsson-syndrome-due-to-mutations-in-the-dyskeratosis-congenita-gene-dkc1(f3a4cfca-490e-470b-87c9-2f491039bf72).html
https://pure.amc.nl/en/publications/unexplained-aplastic-anaemia-immunodeficiency-and-cerebellar-hypoplasia-hoyeraalhreidarsson-syndrome-due-to-mutations-in-the-dyskeratosis-congenita-gene-dkc1(f3a4cfca-490e-470b-87c9-2f491039bf72).html
Akademický článek
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Autor:
Knight, S W, Vulliamy, T J, Heiss, N S, Matthijs, G, Devriendt, K, Connor, J M, D'Urso, M, Poustka, A, Mason, P J, Dokal, I
Publikováno v:
Journal of Medical Genetics; Dec1998, Vol. 35 Issue 12, p993-996, 4p, 1 Black and White Photograph, 4 Diagrams, 1 Chart
Autor:
Filosa, S., Calabrò, V., Lania, G., Vulliamy, T. J., Brancati, C., Tagarelli, A., Luzzatto, L., Martini, G.
Publikováno v:
Genomics; July 1993, Vol. 17 Issue: 1 p6-14, 9p
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7db579256f714c6dbe7fdcdf4df6eba0
http://www.scopus.com/inward/record.url?eid=2-s2.0-77956996211&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-77956996211&partnerID=MN8TOARS
Autor:
Kaeda, J. S., Chhotray, G. P., Ranjit, M. R., José M. Bautista, Reddy, P. H., Stevens, D., Naidu, J. M., Britt, R. P., Vulliamy, T. J., Luzzatto, L., Mason, P. J.
Publikováno v:
Scopus-Elsevier
Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is usually found at high frequencies in areas of the world where malaria has been endemic. The frequency and genetic basis of G6PD deficiency have been studied in Africa, around the Mediterranean
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::12c2f8158939d0b57d4ebabd71adeac1
http://www.scopus.com/inward/record.url?eid=2-s2.0-0028880761&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0028880761&partnerID=MN8TOARS
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::917d1f2c55869da01b893088a2a43dec
http://www.scopus.com/inward/record.url?eid=2-s2.0-0642348943&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0642348943&partnerID=MN8TOARS
Autor:
D Urso, M., Luzzatto, L., Perroni, L., Alfredo Ciccodicola, Gentile, G., Peluso, I., Persico, M. G., Pizzella, T., Toniolo, D., Vulliamy, T. J.
Publikováno v:
Scopus-Elsevier
The genetic polymorphism of an approximately 100-kb DNA region comprising and flanking the glucose-6-phosphate dehydrogenase (G6PD) gene on human chromosome Xq28 has been analyzed in detail. By using 14 unique sequence probes and 18 restriction enzym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c35c37a7f171ff7c30ee74919bce8da8
http://www.scopus.com/inward/record.url?eid=2-s2.0-0023895985&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0023895985&partnerID=MN8TOARS