Show
Sort by
-
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
-
- Miscellaneous
- open access
Direct evidence of alteration to the human neural intracellular trafficking system following exposure to HSV : a systematic review
-
- Miscellaneous
- open access
Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment
-
Leveraging hand-crafted radiomics on multicenter FLAIR MRI for predicting disability progression in people with multiple sclerosis
-
- Miscellaneous
- open access
Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond
-
- Miscellaneous
- open access
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder
-
- Miscellaneous
- open access
ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency
-
The impact of instructions on individual prioritization strategies in a dual-task paradigm for listening effort
-
ClinGen Hereditary hereditary cardiovascular disease gene curation expert panel : reappraisal of genes associated with hypertrophic cardiomyopathy
-
Genomic characterization of Streptococcus pneumoniae isolates among pediatric patients in Addis Ababa, Ethiopia