- Determining and Classification of Genetics Variants Associated with Juvenile Arrythmia
- A Novel Candidate Frameshift Mutation For Leigh Syndrome
- A novel homozygous frameshift SPTBN2 gene mutation associated with Spinocerebellar Ataxia-14
- The role of NGS method in the diagnosis of periodic fever syndrome
- Our experience in BRCA-associated hereditary breast and ovarian cancer syndrome