All Stories

  1. Mindfulness-Based Intervention Improves Quality of Life and Reduces Burden in Family Caregivers of People with Intellectual Disabilities: A Pragmatic Randomized Trial with an Active Control
  2. Brazilian growth charts for 22q11.2 deletion syndrome from birth to 17 years
  3. Family quality of life in the context of Rett syndrome: insights from Brazilian families
  4. Tireoidite granulomatosa subaguda simulando carcinoma de tireoide: desafios diagnósticos
  5. Training Primary Healthcare Professionals for Expanded Newborn Screening with Tandem Mass Spectrometry: Challenges for Community Genetics in Brazil
  6. Mindfulness-Based Intervention Improves Quality of Life and Reduces Burden in Family Caregivers of People with Intellectual Disabilities: A Pragmatic Randomized Trial with an Active Control
  7. Caring for a Child with Cornelia de Lange Syndrome in Brazil: What Families in Brazil Taught Us
  8. Living with Neurofibromatosis type 1 in Brazil: Stories of Uncertainty, Strength, and Adaptation
  9. Patient-centered clinical outcomes - EQ-5D-3L and net promoter score in lysosomal diseases: Data from a participating center in the National Rare Diseases Network (RARAS)
  10. How do clinical geneticists perceive the quality of genetic counseling in Brazil?
  11. Teaching and training of human resources for genetics and genomics in Brazil
  12. FACT: a tool to measure college students' knowledge about the effects of alcohol on pregnancy.
  13. Suicidal behavior among individuals with trisomy 21: an integrative review
  14. Association of sociodemographic and clinical factors with the quality of life of Brazilian individuals with Neurofibromatosis type 1: a cross-sectional study
  15. What do we know about the SARS-CoV-2 infection in people with Down syndrome?
  16. 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
  17. Exploring spiritual/religious coping strategies among mothers of children with severe or profound intellectual disability during genetic counseling in Brazil
  18. Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study
  19. DEFICIÊNCIA INTELECTUAL GRAVE OU PROFUNDA: INVESTIGAÇÃO QUALITATIVA DE ESTRATÉGIAS MATERNAS DE ENFRENTAMENTO
  20. COVID-19 in individuals with sickle cell disease: an integrative review of what we know so far
  21. 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
  22. BELIEFS AND ATTITUDES OF CAREGIVERS REGARDING INFANT FEEDING AND WEIGHT DEVELOPMENT IN THE COVID-19 PANDEMIC
  23. CREENCIAS Y ACTITUDES DE LAS CUIDADORAS SOBRE LA ALIMENTACIÓN Y EL DESARROLLO PONDERAL INFANTIL DURANTE LA PANDEMIA DE COVID-19.
  24. CRENÇAS E ATITUDES DAS CUIDADORAS QUANTO À ALIMENTAÇÃO E EVOLUÇÃO PONDERAL INFANTIL NA PANDEMIA DE COVID-19
  25. How does having a child with Rubinstein-Taybi syndrome in Brazil modify the quality of family life?
  26. Quality of life of Brazilian families who have children with Williams syndrome
  27. Family quality of life among families who have children with mild intellectual disability associated with mild autism spectrum disorder
  28. Currículo médico baseado em competência e especialização voltada à atuação na atenção primária à saúde
  29. Genética em Medicina e Enfermagem: percepções de profissionais de saúde envolvidos com o processo ensino-aprendizagem
  30. Anormalidades cromossômicas identificadas em um serviço de genética médica do interior do Estado de São Paulo, Brasil
  31. Why are Birth Defects Surveillance Programs Important?
  32. Do surgimento à extinção: a trajetória de um serviço ambulatorial de genética médica no Brasil
  33. Alcohol Consumption During Pregnancy in Brazil: Elements of an Interpretive Approach
  34. Neonatal thyrotropin levels and auditory neural maturation in full-term newborns
  35. Neonatal screening program for five conditions in Honduras
  36. Identificação de doenças genéticas na Atenção Primária à Saúde
  37. Effects of intrauterine latent iron deficiency on auditory neural maturation in full-term newborns
  38. Effects of intrauterine latent iron deficiency on auditory neural maturation in full‐term newborns
  39. Fragilidade na formação dos profissionais de saúde quanto à Língua Brasileira de Sinais: reflexo na atenção à saúde dos surdos
  40. Why do women drink (or not) during pregnancy? A study in Brazil
  41. Qualidade de vida de famílias de filhos com deficiência intelectual moderada
  42. A qualitative study about quality of life in Brazilian families with children who have severe or profound intellectual disability
  43. Investigação etiológica nas situações de deficiência intelectual ou atraso global do desenvolvimento
  44. Follicular thyroid carcinoma in a male adolescent with Williams–Beuren syndrome
  45. Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region
  46. Possíveis novos determinantes da qualidade de vida de pacientes com câncer de tireoide tratado: um estudo qualitativo
  47. Quality of Life in Adults with Neurofibromatosis 1 in Brazil
  48. Políticas públicas de saúde para deficientes intelectuais no Brasil: uma revisão integrativa
  49. 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
  50. Triagem neonatal de hemoglobinopatias no município de São Carlos, São Paulo, Brasil: análise de uma série de casos
  51. Os "daltônicos" e suas dificuldades: condição negligenciada no Brasil?
  52. Effects of 3,5,3′-Triiodothyroacetic Acid, Nanoencapsulated or Not, on Intact and Atrophic Skin in Rats
  53. Maternal and perinatal aspects of birth defects: a case-control study
  54. Sarcoidosis simulating metastasis in patient with Merkel cell carcinoma
  55. Afeto, proximidade, frequência e uma clínica hesitante: bases do "vínculo" entre pacientes com síndrome de Down e a Atenção Primária à Saúde?
  56. Endovascular treatment of external iliac vein stenosis caused by graft compression after kidney transplantation
  57. A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state
  58. The Challenges of Incorporating Genetic Testing in the Unified National Health System in Brazil
  59. Confiabilidade da Declaração de Nascido Vivo como fonte de informação sobre os defeitos congênitos no Município de São Carlos, São Paulo, Brasil
  60. Fluorescence spectroscopy as a tool to detect and evaluate glucocorticoid-induced skin atrophy
  61. Amostragem em pesquisas qualitativas: proposta de procedimentos para constatar saturação teórica
  62. Critical analysis of the neonatal screening program for hemoglobinopathies
  63. Ambulatório de genética médica na Apae: experiência no ensino médico de graduação
  64. Monozygotic twins discordant for Goldenhar syndrome
  65. Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas
  66. Efeitos do consumo de bebida alcoólica sobre o feto
  67. Neuroimaging and echocardiographic findings in Sotos syndrome
  68. Neuroimaging and echocardiographic findings in Sotos syndrome
  69. Ablepharon-Macrostomia syndrome: First report of familial occurrence
  70. 10.1016/j.abdp.2024.03.004