논문
쓰리빌리언의 연구 논문을 확인해보세요.
- Paper Title
- Hypotonia, Ataxia, and Delayed Development Syndrome caused by the EBF3 mutation in a Korean boy with muscle hypotonia
- Journal Name, Publication year
- Journal of genetic medicine, 2020
- 링크
- https://www.e-kjgm.org/journal/view.html?doi=10.5734/JGM.2020.17.2.92
- Paper Title
- An A627V activating mutation in the thyroid stimulating hormone receptor gene in a patient with familial non-autoimmune hyperthyroidism
- Journal Name, Publication year
- Annals of Pediatric Endocrinology & Metabolism, 2020
- 링크
- https://e-apem.org/journal/view.php?number=845
- Paper Title
- Diagnosis of Schaaf-Yang syndrome in children with developmental delay by exome sequencing
- Journal Name, Publication year
- Medicine, 2020
- 링크
- https://journals.lww.com/md-journal/Fulltext/2020/12180/Diagnosis_of_Schaaf_Yang_syndrome_in_Korean.119.aspx
- Paper Title
- Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders
- Journal Name, Publication year
- Journal of Clinical Medicine, 2020
- 링크
- https://www.mdpi.com/2077-0383/9/11/3724
- Paper Title
- Clinical characteristics of genetically confirmed patients with retinitis pigmentosa associated with PDE6B mutations
- Journal Name, Publication year
- Scientific reports, 2020
- 링크
- https://www.nature.com/articles/s41598-020-75902-z
