The aim of this project was to study selected Scandinavian University Hospitals ability to detect neural tube defects, abdominal wall defects and Down syndrome prenatally in a low risk population. All

DataCite Commons2023-02-28 更新40

Supplementary Material for: Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome

遗传检测

遗传病预防

Background: Alport syndrome (AS) is a hereditary renal basement membrane disease that can lead to end-stage renal disease in young adults. It can be diagnosed by genetic analysis, being

DataCite Commons2025-06-01 更新30

Table1_Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review.DOCX

群体基因组学

遗传病预防

Studies suggest that 1–3% of the general population in the United States unknowingly carry a genetic risk factor for a common hereditary disease. Population genetic screening is the process of offerin

NIAID Data Ecosystem40

Supplementary Material for: Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome

遗传病预防

基因检测

Background: Alport syndrome (AS) is a hereditary renal basement membrane disease that can lead to end-stage renal disease in young adults. It can be diagnosed by genetic analysis, being

DataCite Commons2021-09-09 更新30