Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome
- Journal Name, Publication year
- Brain and Development, 2020
- 링크
- https://www.brainanddevelopment.com/article/S0387-7604(20)30067-X/abstract
- Paper Title
- Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature
- Journal Name, Publication year
- Annals of Pediatric Endocrinology & Metabolism, 2020
- 링크
- https://e-apem.org/journal/view.php?number=833
- Paper Title
- First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation
- Journal Name, Publication year
- Annals of Clinical & Laboratory Science, 2020
- 링크
- https://pubmed.ncbi.nlm.nih.gov/32161024/
- Paper Title
- Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14
- Journal Name, Publication year
- Journal of Human genetics, 2019
- 링크
- https://www.nature.com/articles/s10038-019-0657-6?proof=t
