8 results on '"Valadares, Eugenia Ribeiro"'
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2. De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
3. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
4. Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter
5. Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia
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
8. Recommendations on Diagnosis, Treatment, and Monitoring for Gaucher Disease
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