Report on an Investigation into an Entry Level Clinical Doctorate for the Genetic Counseling Profession and a Survey of the Association of Genetic Counseling Program Directors
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type
A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia
Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia