Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
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Identification and characterization of novel founder mutations in NDRG1 : refining the genetic landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria
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International journal of molecular sciences - ISSN 1422-0067-25:16 (2024) p. 1-13
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
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Genetics in medicine - ISSN 1098-3600-26:6 (2024) p. 1-14
Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids
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BMC biology - ISSN 1741-7007-21:1 (2023) p. 1-15
HINT1 neuropathy in Lithuania : clinical, genetic, and functional profiling
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Orphanet journal of rare diseases - ISSN 1750-1172-17:1 (2022) p. 1-11