Tag: genetic counseling

This case report examines the severe psychiatric burden, including depression and OCD, experienced by a young adult living with RYR1-related ...

A case report describes two Chinese women with severe Danon disease initially suspected of cardiac amyloidosis, diagnosed through biopsy and ...

A randomized trial at the University of Michigan found that a self-directed digital intervention and phone-based health coaching each increased ...

A seven-year case study of a prenatal 19p13.3–p13.2 duplication found persistent developmental and growth problems alongside variable effects on hearing, ...

A three-family study combined arrays, exome sequencing, karyotyping, quantitative PCR and Sanger sequencing to identify two large deletions and one ...

A decade-long Chinese cohort study followed 19 fetuses with 16p13.11 microduplication and found that most children developed normally, highlighting the ...

A new survey of nearly 1,000 women with hereditary breast cancer susceptibility genes reveals that financial and emotional support services ...

The practical framework outlined by Zhang and Madlensky arrives at a moment when the infrastructure of precision oncology is being ...

A seven-year study of 7,530 Chinese patients undergoing reproductive genetic counseling found that benign chromosomal polymorphisms accounted for more than ...

A new case report and pooled analysis of 35 prenatal cases shows that 15q duplication syndrome frequently escapes prenatal detection ...