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ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum
Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice
Recent advances in the genetics of mitochondrial encephalopathies
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation
Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus
