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Carlos Eduardo Steiner

Departamento de Genética Médica e Medicina Genômica, FCM/Unicamp · Universidade Estadual de Campinas (Unicamp)

https://researchid.co/cesteiner
@portal.fcm.unicamp.br
80Scopus Publications
1996Google Scholar Citations
23Google Scholar h-index
43Google Scholar i10-index

Research Interests

Clinical Genetics

Recent Scopus Publications

  1. Molecular characterization of Alkaptonuria in Brazilian patients
    Molecular Genetics and Metabolism Reports, 2026
  2. 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
    Clinics, 2026
  3. Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants
    Pediatric Research, 2026
  4. Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders
    Molecular Syndromology, 2026
  5. A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project
    Genes, 2025

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