American Journal of Human Genetics 1998 Robert J. Desnick - Abstracts

American Journal of Human Genetics 1998 Robert J. Desnick
TitleSubjectAuthors
Diversity of cystic fibrosis mutation-screening practices.Biological sciencesRobert J. Desnick, Wayne W. Grody, Walter W. Noll, Nancy J. Carpenter
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.(Statistical Data Included)Biological sciencesRobert J. Desnick, Manuel Mendez, Lonnie Sorkin, Maria Victora Rossetti, Kenneth H. Astrin, Alcira M. del C. Batlle, Victoria E. Parera, Gerardo Aizencang
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.Biological sciencesRobert J. Desnick, Judith P. Willner, Bruce D. Gelb, Alain Verloes, Teresa M. Dunn, Nataline B. Kardon, Jacques Poncin
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