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Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
Telatar M, Teraoka S, Wang Z, Chun HH, Liang T, Castellvi-Bel S, Udar N, Borresen-Dale AL, Chessa L, Bernatowska-Matuszkiewicz E, Porras O, Watanabe M, Junker A, Concannon P, Gatti RA. Telatar M, et al. Among authors: bernatowska matuszkiewicz e. Am J Hum Genet. 1998 Jan;62(1):86-97. doi: 10.1086/301673. Am J Hum Genet. 1998. PMID: 9443866 Free PMC article.
Absence of xid mutation in X-linked agammaglobulinaemia.
Vorechovsky I, Zhou JN, Hammarström L, Smith CI, Thomas JD, Paul WE, Notarangelo LD, Bernatowska-Matuszkiewicz E. Vorechovsky I, et al. Among authors: bernatowska matuszkiewicz e. Lancet. 1993 Aug 28;342(8870):552. doi: 10.1016/0140-6736(93)91676-d. Lancet. 1993. PMID: 8102684 No abstract available.
Clinical manifestations of various phagocytic defects.
Bernatowska-Matuszkiewicz E, Smogorzewskan M, Rump Z, Skopczyńska H, Madaliński K. Bernatowska-Matuszkiewicz E, et al. Acta Paediatr Hung. 1988-1989;29(1-2):209-11. Acta Paediatr Hung. 1988. PMID: 3255405 No abstract available.
14 results