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Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Genet Med. 2024 Mar 6;26(6):101117. doi: 10.1016/j.gim.2024.101117. Online ahead of print.
Genet Med. 2024.
PMID: 38459834
Free article.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A, Megy K, Stephens J, Armirola Ricaurte C, Dewhurst E, Low K, French CE, Grozeva D, Stirrups K, Erwood M, McTague A, Penkett CJ, Shamardina O, Tuna S, Daugherty LC, Gleadall N, Duarte ST, Hedrera-Fernández A, Vogt J, Ambegaonkar G, Chitre M, Josifova D, Kurian MA, Parker A, Rankin J, Reid E, Wakeling E, Wassmer E, Woods CG; NIHR BioResource; Raymond FL, Carss KJ.
Sanchis-Juan A, et al. Among authors: armirola ricaurte c.
Am J Hum Genet. 2023 Aug 3;110(8):1343-1355. doi: 10.1016/j.ajhg.2023.07.007.
Am J Hum Genet. 2023.
PMID: 37541188
Free PMC article.
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HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
Malcorps M, Amor-Barris S, Burnyte B, Vilimiene R, Armirola-Ricaurte C, Grigalioniene K, Ekshteyn A, Morkuniene A, Vaitkevicius A, De Vriendt E, Baets J, Scherer SS, Ambrozaityte L, Utkus A, Jordanova A, Peeters K.
Malcorps M, et al. Among authors: armirola ricaurte c.
Orphanet J Rare Dis. 2022 Oct 14;17(1):374. doi: 10.1186/s13023-022-02541-0.
Orphanet J Rare Dis. 2022.
PMID: 36242072
Free PMC article.
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