Bianca B. Abdala
Almeida, RJ, Brazil
Last Updated: 09/26/2026
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Found 8 publications
Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.
Journal: Frontiers in genetics
Published: April 08, 2026
Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report.
Journal: Frontiers in genetics
Published: January 23, 2025
A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.
Journal: European journal of medical genetics
Published: April 08, 2022
A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.
Journal: Metabolic brain disease
Published: April 01, 2022
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.
Journal: European journal of medical genetics
Published: March 11, 2021
Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.
Journal: Frontiers in genetics
Published: July 31, 2019
Influence of low frequency PSEN1 variants on familial Alzheimer's disease risk in Brazil.
Journal: Neuroscience letters
Published: March 29, 2017
rs3851179 Polymorphism at 5' to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population.
Journal: Neuromolecular medicine
Published: July 19, 2016
Showing 1-8 of 8
Last Updated: 09/26/2026