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Genetic landscape of pediatric acute liver failure of indeterminate origin
UploadVariants in ATP5F1B are associated with dominantly inherited dystonia
UploadAuthor Correction: Detection of aberrant splicing events in RNA-seq data using FRASER
Download from www.nature.comDNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
Download from academic.oup.comCharacterising a homozygous two‐exon deletion in UQCRH : comparing human and mouse phenotypes
Download from doi.orgA comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse
Download from link.springer.comDetection of aberrant splicing events in RNA-seq data using FRASER
Download from www.nature.comImpaired complex I repair causes recessive Leber’s hereditary optic neuropathy
Download from doi.orgDetection of aberrant gene expression events in RNA sequencing data
Download from www.nature.comMitochondrial Regulation of the 26S Proteasome
Download from doi.orgPediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations
Download from api.wiley.comSSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
Download from doi.orgOUTRIDER: A statistical method for detecting aberrantly expressed genes in RNA sequencing data
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