All Stories

  1. Teaching and training of human resources for genetics and genomics in Brazil
  2. FACT: a tool to measure college students' knowledge about the effects of alcohol on pregnancy.
  3. Suicidal behavior among individuals with trisomy 21: an integrative review
  4. Association of sociodemographic and clinical factors with the quality of life of Brazilian individuals with Neurofibromatosis type 1: a cross-sectional study
  5. What do we know about the SARS-CoV-2 infection in people with Down syndrome?
  6. Prevalence and antimicrobial resistance profile of pathogens isolated from patients with urine tract infections admitted to a university hospital in a medium-sized Brazilian city
  7. Exploring spiritual/religious coping strategies among mothers of children with severe or profound intellectual disability during genetic counseling in Brazil
  8. Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study
  9. DEFICIÊNCIA INTELECTUAL GRAVE OU PROFUNDA: INVESTIGAÇÃO QUALITATIVA DE ESTRATÉGIAS MATERNAS DE ENFRENTAMENTO
  10. COVID-19 in individuals with sickle cell disease: an integrative review of what we know so far
  11. Cross-cultural adaptation and psychometric properties of the Brazilian Portuguese version of the Impact of Neurofibromatosis type 1 on Quality of Life (INF1-QoL) questionnaire
  12. BELIEFS AND ATTITUDES OF CAREGIVERS REGARDING INFANT FEEDING AND WEIGHT DEVELOPMENT IN THE COVID-19 PANDEMIC
  13. CREENCIAS Y ACTITUDES DE LAS CUIDADORAS SOBRE LA ALIMENTACIÓN Y EL DESARROLLO PONDERAL INFANTIL DURANTE LA PANDEMIA DE COVID-19.
  14. CRENÇAS E ATITUDES DAS CUIDADORAS QUANTO À ALIMENTAÇÃO E EVOLUÇÃO PONDERAL INFANTIL NA PANDEMIA DE COVID-19
  15. How does having a child with Rubinstein-Taybi syndrome in Brazil modify the quality of family life?
  16. Quality of life of Brazilian families who have children with Williams syndrome
  17. Family quality of life among families who have children with mild intellectual disability associated with mild autism spectrum disorder
  18. Currículo médico baseado em competência e especialização voltada à atuação na atenção primária à saúde
  19. Genética em Medicina e Enfermagem: percepções de profissionais de saúde envolvidos com o processo ensino-aprendizagem
  20. Anormalidades cromossômicas identificadas em um serviço de genética médica do interior do Estado de São Paulo, Brasil
  21. Why are Birth Defects Surveillance Programs Important?
  22. Do surgimento à extinção: a trajetória de um serviço ambulatorial de genética médica no Brasil
  23. Alcohol Consumption During Pregnancy in Brazil: Elements of an Interpretive Approach
  24. Neonatal thyrotropin levels and auditory neural maturation in full-term newborns
  25. Neonatal screening program for five conditions in Honduras
  26. Identificação de doenças genéticas na Atenção Primária à Saúde
  27. Effects of intrauterine latent iron deficiency on auditory neural maturation in full-term newborns
  28. Effects of intrauterine latent iron deficiency on auditory neural maturation in full‐term newborns
  29. Fragilidade na formação dos profissionais de saúde quanto à Língua Brasileira de Sinais: reflexo na atenção à saúde dos surdos
  30. Why do women drink (or not) during pregnancy? A study in Brazil
  31. Qualidade de vida de famílias de filhos com deficiência intelectual moderada
  32. A qualitative study about quality of life in Brazilian families with children who have severe or profound intellectual disability
  33. Investigação etiológica nas situações de deficiência intelectual ou atraso global do desenvolvimento
  34. Follicular thyroid carcinoma in a male adolescent with Williams–Beuren syndrome
  35. Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region
  36. Possíveis novos determinantes da qualidade de vida de pacientes com câncer de tireoide tratado: um estudo qualitativo
  37. Quality of Life in Adults with Neurofibromatosis 1 in Brazil
  38. Políticas públicas de saúde para deficientes intelectuais no Brasil: uma revisão integrativa
  39. Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education
  40. Triagem neonatal de hemoglobinopatias no município de São Carlos, São Paulo, Brasil: análise de uma série de casos
  41. Os "daltônicos" e suas dificuldades: condição negligenciada no Brasil?
  42. Effects of 3,5,3′-Triiodothyroacetic Acid, Nanoencapsulated or Not, on Intact and Atrophic Skin in Rats
  43. Maternal and perinatal aspects of birth defects: a case-control study
  44. Sarcoidosis simulating metastasis in patient with Merkel cell carcinoma
  45. Afeto, proximidade, frequência e uma clínica hesitante: bases do "vínculo" entre pacientes com síndrome de Down e a Atenção Primária à Saúde?
  46. Endovascular treatment of external iliac vein stenosis caused by graft compression after kidney transplantation
  47. A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state
  48. The Challenges of Incorporating Genetic Testing in the Unified National Health System in Brazil
  49. Confiabilidade da Declaração de Nascido Vivo como fonte de informação sobre os defeitos congênitos no Município de São Carlos, São Paulo, Brasil
  50. Fluorescence spectroscopy as a tool to detect and evaluate glucocorticoid-induced skin atrophy
  51. Amostragem em pesquisas qualitativas: proposta de procedimentos para constatar saturação teórica
  52. Critical analysis of the neonatal screening program for hemoglobinopathies
  53. Ambulatório de genética médica na Apae: experiência no ensino médico de graduação
  54. Monozygotic twins discordant for Goldenhar syndrome
  55. Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas
  56. Efeitos do consumo de bebida alcoólica sobre o feto
  57. Neuroimaging and echocardiographic findings in Sotos syndrome
  58. Neuroimaging and echocardiographic findings in Sotos syndrome
  59. Ablepharon-Macrostomia syndrome: First report of familial occurrence