American Journal of Human Genetics 1998 Robert J. Desnick - Abstracts
American Journal of Human Genetics 1998 Robert J. Desnick | |||||
Title | Subject | Authors | |||
---|---|---|---|---|---|
Diversity of cystic fibrosis mutation-screening practices. | Biological sciences | Robert 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 sciences | Robert 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 sciences | Robert J. Desnick, Judith P. Willner, Bruce D. Gelb, Alain Verloes, Teresa M. Dunn, Nataline B. Kardon, Jacques Poncin |
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