Joao B. Oliveira

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 13 publications

Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders.

Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders.

Journal: Cerebellum (London, England)

Published: March 11, 2025

Hereditary Truncal Dystonia Associated with ANO3 Gene Variant.

Hereditary Truncal Dystonia Associated with ANO3 Gene Variant.

Journal: Movement disorders clinical practice

Published: April 26, 2024

Assessing the Risk Stratification of Breast Cancer Polygenic Risk Scores in a Brazilian Cohort.

Assessing the Risk Stratification of Breast Cancer Polygenic Risk Scores in a Brazilian Cohort.

Journal: The Journal of molecular diagnostics : JMD

Published: October 09, 2023

Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America.

Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America.

Journal: Frontiers in genetics

Published: September 25, 2022

Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.

Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.

Journal: International journal for equity in health

Published: September 16, 2022

Efficacy of dupilumab for the treatment of severe skin disease in cytotoxic T lymphocyte antigen-4 insufficiency: A role of type 2 inflammation?

Efficacy of dupilumab for the treatment of severe skin disease in cytotoxic T lymphocyte antigen-4 insufficiency: A role of type 2 inflammation?

Journal: The journal of allergy and clinical immunology. Global

Published: April 16, 2022

Gain-of-function STAT1 mutation and visceral leishmaniasis.

Gain-of-function STAT1 mutation and visceral leishmaniasis.

Journal: Einstein (Sao Paulo, Brazil)

Published: February 03, 2022

The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis.

The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis.

Journal: Frontiers in molecular biosciences

Published: November 24, 2021

Quadrupedal gait and cerebellar hypoplasia, the Uner Tan syndrome, caused by ITPR1 gene mutation.

Quadrupedal gait and cerebellar hypoplasia, the Uner Tan syndrome, caused by ITPR1 gene mutation.

Journal: Parkinsonism & related disorders

Published: August 22, 2021

Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil.

Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil.

Journal: Journal of clinical immunology

Published: August 07, 2020

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Journal: The Journal of clinical investigation

Published: November 02, 2016

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Journal: The Journal of clinical investigation

Published: December 12, 2014

Showing 1-12 of 13

Last Updated: 09/26/2026