KCNQ2 Loss-of-Function variants disrupt neuronal maturation via early hyperexcitability followed by maladaptive network remodeling
Bron
- (2025) p. 1-42
KCNQ2 Loss-of-Function variants disrupt neuronal maturation via early hyperexcitability followed by maladaptive network remodeling
Bron
- () p.
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy
Bron
Epilepsia - ISSN 0013-9580-66:5 (2025) p. 1613-1627
Identification and characterization of novel founder mutations in NDRG1 : refining the genetic landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria
Bron
International journal of molecular sciences - ISSN 1422-0067-25:16 (2024) p. 1-13
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
Bron
- (2024) p.