Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management
- Journal Name, Publication year
- Molecular Genetics and Genomics, 2024
- 링크
- https://www.mdpi.com/1422-0067/25/21/11722
- 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
- Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
- Journal Name, Publication year
- Genetic Medicine, 2024
- 링크
- https://pubmed.ncbi.nlm.nih.gov/39275948/
