논문
쓰리빌리언의 연구 논문을 확인해보세요.
- 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
- Paper Title
- Whole exome sequencing confirms molecular diagnostics of three pakhtun families with autosomal recessive epidermolysis bullosa
- Journal Name, Publication year
- Frontiers in Pediatrics, 2021
- 링크
- https://pubmed.ncbi.nlm.nih.gov/34414147/
- Paper Title
- Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14
- Journal Name, Publication year
- The journal of genetic medicine, 2021
- 링크
- https://www.e-kjgm.org/journal/view.html?uid=335&&vmd=Full
