논문
쓰리빌리언의 연구 논문을 확인해보세요.
- Paper Title
- The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6
- Journal Name, Publication year
- Journal of Clinical neurology, 2022
- 링크
- https://thejcn.com/DOIx.php?id=10.3988/jcn.2022.18.2.233
- Paper Title
- The first case of novel variants of FSHR mutation causing primary amenorrhea in two siblings in Korea
- Journal Name, Publication year
- Ann Pediatr Endocrinol Metab, 2022
- 링크
- https://e-apem.org/journal/view.php?doi=10.6065/apem.2142116.058
- Paper Title
- Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria and severe intellectual disability in a Pakhtun family
- Journal Name, Publication year
- Am J Med Genet A, 2021
- 링크
- https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.62856
- Paper Title
- A sibling study of infantile cerebellar-retinal degeneration with novel compound heterozygous variants in ACO2
- Journal Name, Publication year
- Frontiers in genetics, 2021
- 링크
- https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.729980/full?journalName=Frontiers_in_Genetics&id=729980
- Paper Title
- A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia
- Journal Name, Publication year
- Eur J Med Genet, 2021
- 링크
- https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(21)00253-6
