Raquel Boy

Rio De Janeiro, RJ 20551030, Brazil

Last Updated: 09/26/2026

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Found 14 publications

A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.

A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.

Journal: Journal of clinical medicine

Published: September 26, 2025

SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.

SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.

Journal: American journal of medical genetics. Part A

Published: May 25, 2024

Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.

Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.

Journal: American journal of medical genetics. Part A

Published: April 08, 2024

A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

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

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Journal: HGG advances

Published: July 13, 2021

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.

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.

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

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.

Journal: The international journal of biochemistry & cell biology

Published: August 25, 2017

Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.

Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.

Journal: Journal of inherited metabolic disease

Published: August 09, 2017

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

Journal: PloS one

Published: June 23, 2017

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

Journal: PloS one

Published: November 17, 2016

Finding FMR1 mosaicism in Fragile X syndrome.

Finding FMR1 mosaicism in Fragile X syndrome.

Journal: Expert review of molecular diagnostics

Published: December 31, 2015

Showing 1-12 of 14

Last Updated: 09/26/2026