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Your search keyword '"Valadares, Eugenia Ribeiro"' showing total 8 results

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8 results on '"Valadares, Eugenia Ribeiro"'

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1. De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

2. Hereditary fructose intolerance in Brazilian patients

3. Guidelines for the Management of Mucopolysaccharidosis Type I

5. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

6. Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

7. Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

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