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1. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
2. Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia
3. Phenotypic continuum of NFU1-related disorders
4. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
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