Carlos E. Steiner

Campinas, RS, Brazil

Last Updated: 09/26/2026

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Found 48 publications

Oncogenetics training in Brazilian medical genetics residency programs: current landscape and challenges.

Oncogenetics training in Brazilian medical genetics residency programs: current landscape and challenges.

Journal: Journal of community genetics

Published: March 20, 2026

Novel Variant and a Possible New Founder Effect for Xeroderma Pigmentosum Variant Type in Southeast Brazil: Case Report.

Novel Variant and a Possible New Founder Effect for Xeroderma Pigmentosum Variant Type in Southeast Brazil: Case Report.

Journal: Case reports in dermatology

Published: March 09, 2026

Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.

Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.

Journal: Einstein (Sao Paulo, Brazil)

Published: September 24, 2025

Molecular characterization of Alkaptonuria in Brazilian patients.

Molecular characterization of Alkaptonuria in Brazilian patients.

Journal: Molecular genetics and metabolism reports

Published: August 22, 2025

From diagnosis to daily life: A comparative pilot study on healthcare access and challenges for neurofibromatosis type 1 in public systems of Brazil and Portugal.

From diagnosis to daily life: A comparative pilot study on healthcare access and challenges for neurofibromatosis type 1 in public systems of Brazil and Portugal.

Journal: Clinics (Sao Paulo, Brazil)

Published: July 15, 2025

Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants.

Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants.

Journal: Pediatric research

Published: June 26, 2025

Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report.

Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report.

Journal: Molecular syndromology

Published: June 05, 2025

A comprehensive approach to users from a Brazilian clinical genetics service: an observational study.

A comprehensive approach to users from a Brazilian clinical genetics service: an observational study.

Journal: Orphanet journal of rare diseases

Published: May 13, 2025

A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.

A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.

Journal: Genes

Published: April 13, 2025

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Journal: Molecular syndromology

Published: October 05, 2024

Clinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome.

Clinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome.

Journal: Cytogenetic and genome research

Published: May 22, 2024

Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.

Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.

Journal: Molecular genetics and metabolism

Published: May 02, 2024

Showing 1-12 of 48

Last Updated: 09/26/2026