논문
쓰리빌리언의 연구 논문을 확인해보세요.
- Paper Title
- Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE
- Journal Name, Publication year
- Clinical genetics, 2020
- 링크
- https://onlinelibrary.wiley.com/doi/full/10.1111/cge.13848
- Paper Title
- The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 gene mutations in two siblings confirmed by clinical and molecular investigation
- Journal Name, Publication year
- Brain and Development, 2020
- 링크
- https://www.brainanddevelopment.com/article/S0387-7604(20)30257-6/abstract
- Paper Title
- Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
- Journal Name, Publication year
- Annals of Pediatric Endocrinology & Metabolism, 2020
- 링크
- https://e-apem.org/journal/view.php?number=818
- Paper Title
- Rapidly progressing early puberty in a boy with bilateral basal ganglia germinoma and TREX1 variant
- Journal Name, Publication year
- Iranian Journal of Pediatrics, 2020
- 링크
- https://academic.oup.com/bioinformatics/article/37/24/4626/6322986?login=false
- Paper Title
- Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome
- Journal Name, Publication year
- Brain and Development, 2020
- 링크
- https://www.brainanddevelopment.com/article/S0387-7604(20)30067-X/abstract
