Publications
Check out research papers published by 3billion and collaborators.
- 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/
- 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