논문
쓰리빌리언의 연구 논문을 확인해보세요.
- Paper Title
- Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant
- Journal Name, Publication year
- Orphanet Journal of Rare Diseases, 2024
- 링크
- https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03411-7
- Paper Title
- Role of Genetic Testing in Diagnosis and Prognosis Prediction in Hypertrophic Cardiomyopathy in Korea
- Journal Name, Publication year
- Journal of Korean Medical Science, 2024
- 링크
- https://jkms.org/DOIx.php?id=10.3346/jkms.2024.39.e313
- Paper Title
- The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
- Journal Name, Publication year
- Egyptian Journal of Medical Human Genetics, 2024
- 링크
- https://jmhg.springeropen.com/articles/10.1186/s43042-024-00579-2
- Paper Title
- ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review
- Journal Name, Publication year
- Egyptian Journal of Medical Human Genetics, 2024
- 링크
- https://jmhg.springeropen.com/articles/10.1186/s43042-024-00499-1
- Paper Title
- A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
- Journal Name, Publication year
- Journal of Human Genetics , 2024
- 링크
- https://www.nature.com/articles/s10038-024-01279-w
