publication venue for
- Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.. 43:295-305. 2006
- Equal expression of typ X collagen mRNA fom mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid.. 37:627-629. 2000
- The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.. 21:257-262. 1984