Sayonara Gonzalez
Almeida, RJ, Brazil
Last Updated: 09/26/2026
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Found 10 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
Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.
Journal: Scientific reports
Published: February 19, 2024
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.
Journal: The application of clinical genetics
Published: May 07, 2022
High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with FGFR3-Related Skeletal Dysplasias.
Journal: Genetic testing and molecular biomarkers
Published: October 21, 2021
Pregnancy-induced hypertension, preterm birth, and cord blood adipokine levels.
Journal: European journal of pediatrics
Published: November 01, 2019
Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.
Journal: Molecular syndromology
Published: June 17, 2019
Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.
Journal: Molecular syndromology
Published: December 18, 2017
Conserved transcription factor binding sites suggest an activator basal promoter and a distal inhibitor in the galanin gene promoter in mouse ES cells.
Journal: Gene
Published: October 10, 2013
Showing 1-10 of 10
Last Updated: 09/26/2026