Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disordersReza Maroofian, Sinan Akbaş, Rauan Kaiyrzhanov et al.|Brain|2023Cited by 20
Biallelic <i>EPB41L3</i> variants underlie a developmental disorder with seizures and myelination defectsElizabeth A. Werren, Anju Shukla, Siddaramappa J. Patil et al.|Brain|2024Cited by 3