Rafaella Mergener

Porto Alegre, RS, Brazil

Last Updated: 09/26/2026

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Found 15 publications

Partial trisomy of 1q42.1 and 8q24.3 deletion: a family history.

Partial trisomy of 1q42.1 and 8q24.3 deletion: a family history.

Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

Published: December 30, 2025

Genetic Analysis Strategy for Diagnosing Congenital Heart Disease.

Genetic Analysis Strategy for Diagnosing Congenital Heart Disease.

Journal: Molecular syndromology

Published: April 03, 2025

SCA10 expansions occur in the Brazilian general population, but rearrangement happens between expansion and rs41524547.

SCA10 expansions occur in the Brazilian general population, but rearrangement happens between expansion and rs41524547.

Journal: Human molecular genetics

Published: January 20, 2025

The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10.

The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10.

Journal: Journal of neurology

Published: January 20, 2025

First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes.

First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes.

Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

Published: June 12, 2024

What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication.

What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication.

Journal: Cell biochemistry and function

Published: June 04, 2024

invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences.

invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences.

Journal: Genes

Published: May 09, 2024

Turner syndrome and neuropsychological abnormalities: a review and case series.

Turner syndrome and neuropsychological abnormalities: a review and case series.

Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

Published: October 13, 2023

16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?

16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?

Journal: Genes

Published: June 29, 2023

A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings.

A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings.

Journal: European journal of medical genetics

Published: November 23, 2020

Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.

Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.

Journal: Neuromolecular medicine

Published: July 14, 2019

Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.

Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.

Journal: Molecular neurobiology

Published: September 24, 2018

Showing 1-12 of 15

Last Updated: 09/26/2026