Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Rapidly progressing early puberty in a boy with bilateral basal ganglia germinoma and TREX1 variant
- Journal Name, Publication year
- Iranian Journal of Pediatrics, 2020
- 링크
- https://academic.oup.com/bioinformatics/article/37/24/4626/6322986?login=false
- 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
- 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
- Paper Title
- Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
- Journal Name, Publication year
- npj genomic medicine, -63024
- 링크
- https://www.nature.com/articles/s41525-024-00455-3
