3billion

논문

쓰리빌리언의 연구 논문을 확인해보세요.

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
Paper Title
Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation
Journal Name, Publication year
Childhood kidney diseases, 2021
링크
https://chikd.org/journal/view.php?id=10.3339/jkspn.2021.25.2.128
  1. 1
  2. 16
  3. 17
  4. 18
  5. 19
  6. 20

제안하실 연구 협업이
있으신가요?