All Stories

  1. O segredo na clínica da ambiguidade genital: um estudo de caso
  2. Genomic imbalances in syndromic congenital heart disease
  3. Genomic imbalances in syndromic congenital heart disease
  4. Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes
  5. 17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation
  6. A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis
  7. Diagnostic implications of associated defects in patients with typical orofacial clefts
  8. Diagnostic implications of associated defects in patients with typical orofacial clefts
  9. Clinical Features in Patients with 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities
  10. Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation
  11. Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients
  12. Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia
  13. Risk factors and the prevention of oral clefts
  14. Family care practitioners experience with individuals with orofacial clefts in Brazil
  15. Local Strategies to Address Health Needs of Individuals with Orofacial Clefts in Alagoas, Brazil
  16. Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature
  17. Adequação da demanda de crianças e adolescentes atendidos na Unidade de Emergência em Maceió, Alagoas, Brasil
  18. Evaluation of Craniofacial Care outside the Brazilian Reference Network for Craniofacial Treatment
  19. A clinical study of 77 patients with mucopolysaccharidosis type II
  20. Brazil's Craniofacial Project: Genetic Evaluation and Counseling in the Reference Network for Craniofacial Treatment
  21. Anomalias craniofaciais: descrição e avaliação das características gerais da atenção no Sistema Único de Saúde
  22. Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome
  23. Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia