Search Results (13)
Click the Why column to see why an item matched the search.
| Match | Type | Why |
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| Characterization of the renal phenotype in RMND1-related mitochondrial disease. | Academic Article |
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| CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. | Academic Article |
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| Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. | Academic Article |
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| ClinGen Gene Curation Working Group and Clinical Domain Working Group Oversight Committee: mitochondrial diseases | Grant |
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| Mitochondrial Diseases | Concept |
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| Thiffault, Isabelle | Person |
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| Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. | Academic Article |
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| A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy. | Academic Article |
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| Gannon, Jennifer | Person |
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| MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. | Academic Article |
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| The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1. | Academic Article |
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| Farrow, Emily | Person |
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| Lamb, Dolores | Person |
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