논문
쓰리빌리언의 연구 논문을 확인해보세요.
- Paper Title
- Three siblings with giant axonal neuropathy caused by a novel variant in GAN gene: the first report from Egypt
- Journal Name, Publication year
- Egyptian Journal of Medical Human Genetics, 2025
- 링크
- https://link.springer.com/article/10.1186/s43042-025-00755-y
- Paper Title
- Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case series
- Journal Name, Publication year
- Cardiovascular Diagnosis and Therapy, 2025
- 링크
- https://cdt.amegroups.org/article/view/147135/html
- Paper Title
- EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects
- Journal Name, Publication year
- Brain, 2025
- 링크
- https://academic.oup.com/brain/advance-article-abstract/doi/10.1093/brain/awaf371/8277101?redirectedFrom=fulltext&login=false
- Paper Title
- From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variant
- Journal Name, Publication year
- J Child Neurol., 2025
- 링크
- https://journals.sagepub.com/doi/10.1177/08830738251404115?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
- Paper Title
- First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2
- Journal Name, Publication year
- Int. J. Mol. Sci., 2025
- 링크
- https://www.mdpi.com/1422-0067/26/24/12039
