Publications
Check out research papers published by 3billion and collaborators.
- 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/
- Paper Title
- Genetic Investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss
- Journal Name, Publication year
- Sci Rep, 2024
- 링크
- https://pubmed.ncbi.nlm.nih.gov/39271758/
- Paper Title
- Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
- Journal Name, Publication year
- Nature communication, 2024
- 링크
- https://pubmed.ncbi.nlm.nih.gov/39174524/
