Journal of Community Genetics - 2025

17 articles | Last updated: 2025-12-03 14:12:57

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Experiences of stigmatization and its impacts among individuals living with hereditary diseases and family members in Portugal: an exploratory study
1st Congress of Tunisian Society of Human Genomics, October 17-19, 2024, Sousse, Tunisia
Is Brazil following global trends in high-cost treatments? The case of Pompe Disease
Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges
Redefining the approach to rare diseases: the experience of “Casa dos Raros” in Brazil
Enhancing familial hypercholesterolemia diagnosis in pediatrics through universal screening and provider education
Perceptions of patients and stakeholders on a prenatal sickle cell disease screening and its results among tribal populations of Gujarat: a participatory mixed-method research
Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina
Assessment of biobank awareness among medical students in Iran
Adaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study
Newborn screening in Brazil: realities and challenges
Qualitative assessment of primary care providers’ attitudes toward genetic services and genetics education
The other side of variant transthyretin amyloidosis with polyneuropathy: psychosocial experience of members of Portuguese families with late onset of the disease							✓	✓	Portuguese families
“I am sick, but that’s not all that I am”: patient perspectives on psychological adaptation over time to inborn errors of immunity
Genetic counselling for psychiatric conditions: exploring current perceptions of family physicians and psychiatrists in Portugal
Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing