All Stories

  1. The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years’ experience
  2. Epidemiological profile of congenital hypothyroidism at a southern Brazilian state
  3. Evaluation of RET-He values as an early indicator of iron deficiency anemia in pregnant women
  4. Avaliação dos indicadores de um serviço de referência em triagem neonatal no sul do Brasil durante a pandemia por COVID-19.
  5. Twenty Years of Neonatal Screening for Sickle Cell Disease in Brazil: The Challenges of a Continental Country with High Genetic Heterogeneity
  6. Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns
  7. Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation
  8. Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation☆☆
  9. A Low-Cost and Simple Genetic Screening for Cystic Fibrosis Provided by the Brazilian Public Health System
  10. Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia
  11. Do Alpha Thalassemia, Fetal Hemoglobin, and the UGT1A1 Polymorphism have an Influence on Serum Bilirubin Levels and Cholelithiasis in Patients with Sickle Cell Disease?
  12. Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants
  13. Genetic Screening Processo for Newborn Screening
  14. The effects of old and recent migration waves in the distribution of HBB*S globin gene haplotypes
  15. Flow Cytometry in Detection of Fetal Red Blood Cells and Maternal F Cells to Identify Fetomaternal Hemorrhage
  16. Neutrophil CD64 expression as an important diagnostic marker of infection and sepsis in hospital patients
  17. Association of Hemoglobin E-Saskatoon with Hemoglobin S: Report of the First Case Found in Brazil
  18. Thalassemia major phenotypes secondary to the association of β 5′UTR +20(C→T) allele with β 39(C→T)
  19. UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?
  20. Prevalence ofUGT1A1Gene Polymorphism in Patients with Hemolytic Anemia in Southern Brazil
  21. Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia
  22. Neonatal Screening for Hemoglobinopathies: Results of a Public Health System in South Brazil
  23. Definition of reference ranges for the platelet distribution width (PDW): a local need
  24. Identification of β thalassemia mutations in South Brazilians
  25. Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in patients from the southern Brazilian city of Porto Alegre, RS