18 results on '"Pardono, Eliete"'
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2. Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants
3. Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.
4. Waardenburg syndrome: Novel mutations in a large Brazilian sample
5. The structure of first-cousin marriages in Brazil
6. Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss
7. Is autosomal recessive deafness associated with oculocutaneous albinism a “coincidence syndrome”?
8. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects
9. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome
10. A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome
11. A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome
12. A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome
13. Conhecimento e utilização da fitoterapia em idosos com aderência às práticas integrativas: estudo piloto
14. Erratum: Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness
15. Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness
16. Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant
17. Waardenburg syndrome: Clinical differentiation between types I and II
18. Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.
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