Items where Author is "Stefanini, M."

Broughton, B.C. and Berneburg, M. and Fawcett, H. and Taylor, Elaine M. and Arlett, C.F. and Nardo, T. and Stefanini, M. and Menefee, E. and Price, V.H. and Queille, S. and Sarasin, A. and Bohnert, E. and Krutmann, J. and Davidson, R. and Kraemer, K.H. and Lehmann, A.R. (2001) Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Human Molecular Genetics, 10 (22). pp. 2539-2547. ISSN 1460-2083

Taylor, Elaine M. and Broughton, B.C. and Botta, E. and Stefanini, M. and Sarasin, A. and Jaspers, N.G. and Fawcett, H. and Harcourt, S.A. and Arlett, C.F. and Lehmann, A.R. (1997) Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proceedings of the National Academy of Sciences of the United States of America, 94 (16). pp. 8658-8663. ISSN 0027-8424