12 results on '"Gonçalves, Andressa Pereira"'
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2. A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation
3. Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome
4. Finding FMR1 mosaicism in Fragile X syndrome
5. Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing
6. Identification of a novel epigenetic marker for typical and mosaic presentations of Fragile X syndrome
7. rs3851179 Polymorphism at 5′ to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population
8. KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature
9. Necessidade ou oportunidade? Os dilemas dos microempreendedores fluminenses
10. Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability
11. Influence of low frequency PSEN1 variants on familial Alzheimer’s disease risk in Brazil
12. FindingFMR1mosaicism in Fragile X syndrome
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