Cynthia P. Silveira
Campinas, RS, Brazil
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 15 publications
Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.
Journal: Molecular biology of the cell
Published: June 17, 2026
Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.
Journal: bioRxiv : the preprint server for biology
Published: April 10, 2026
Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.
Journal: bioRxiv : the preprint server for biology
Published: April 10, 2026
SCA27B in Brazil: frequency, phenotype and genotype-phenotype correlations.
Journal: Journal of neurology
Published: February 22, 2026
Spinal cord structural changes in SPG4: insights from a large cohort using advanced neuroimaging.
Journal: Journal of neurology
Published: June 18, 2025
Survival in Brazilian Patients with Friedreich´s Ataxia.
Journal: Cerebellum (London, England)
Published: May 30, 2025
Plasma miRNAs Correlate with Structural Brain and Cardiac Damage in Friedreich's Ataxia.
Journal: Cerebellum (London, England)
Published: October 23, 2024
A mesomelic skeletal dysplasia, Kantaputra-like, not related to HOXD cluster region, and with phenotypic gender differences.
Journal: American journal of medical genetics. Part A
Published: June 22, 2023
Neonatal screening for spinal muscular atrophy: A pilot study in Brazil.
Journal: Genetics and molecular biology
Published: April 28, 2023
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: June 22, 2021
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.
Journal: Molecular syndromology
Published: June 11, 2021
Skeletal dysplasias in Latin America.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: September 13, 2020
Last Updated: 09/26/2026