Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Combined immunodeficiency and impaired PI3K signaling in a patient with biallelic LCP2 variants
- Journal Name, Publication year
- Journal of Allergy and Clinical Immunology, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37211057/
- Paper Title
- The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti
- Journal Name, Publication year
- Diagnostics, 2023
- 링크
- https://www.mdpi.com/2075-4418/13/7/1300
- Paper Title
- Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants
- Journal Name, Publication year
- Molecular Neurobiology, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/36943625/
- Paper Title
- A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans
- Journal Name, Publication year
- Eur J Hum Genet, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/36797467/
- Paper Title
- Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed development
- Journal Name, Publication year
- Molecular medicine, 2022
- 링크
- https://molmed.biomedcentral.com/articles/10.1186/s10020-022-00464-x
