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Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.

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Title: Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.
Authors: Tinker RJ; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA., Jacob N; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA., Syed MG; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai New York New York USA.; Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York USA., Kelkar J; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA., Donnelly C; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA., Elsharkawi I; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA., Ganesh J; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA., Gelb BD; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York USA., Pejaver V; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai New York New York USA.; Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York USA., Kozicz T; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA., Morava E; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA.
Source: JIMD reports [JIMD Rep] 2026 Jan 22; Vol. 67 (1), pp. e70068. Date of Electronic Publication: 2026 Jan 22 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.
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  Data: <searchLink fieldCode="AU" term="%22Tinker+RJ%22">Tinker RJ</searchLink>; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA.<br /><searchLink fieldCode="AU" term="%22Jacob+N%22">Jacob N</searchLink>; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA.<br /><searchLink fieldCode="AU" term="%22Syed+MG%22">Syed MG</searchLink>; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai New York New York USA.; Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York USA.<br /><searchLink fieldCode="AU" term="%22Kelkar+J%22">Kelkar J</searchLink>; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA.<br /><searchLink fieldCode="AU" term="%22Donnelly+C%22">Donnelly C</searchLink>; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA.<br /><searchLink fieldCode="AU" term="%22Elsharkawi+I%22">Elsharkawi I</searchLink>; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA.<br /><searchLink fieldCode="AU" term="%22Ganesh+J%22">Ganesh J</searchLink>; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA.<br /><searchLink fieldCode="AU" term="%22Gelb+BD%22">Gelb BD</searchLink>; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York USA.<br /><searchLink fieldCode="AU" term="%22Pejaver+V%22">Pejaver V</searchLink>; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai New York New York USA.; Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York USA.<br /><searchLink fieldCode="AU" term="%22Kozicz+T%22">Kozicz T</searchLink>; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA.<br /><searchLink fieldCode="AU" term="%22Morava+E%22">Morava E</searchLink>; Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA.
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  Data: <searchLink fieldCode="JN" term="%22101568557%22">JIMD reports</searchLink> [JIMD Rep] 2026 Jan 22; Vol. 67 (1), pp. e70068. <i>Date of Electronic Publication: </i>2026 Jan 22 (<i>Print Publication: </i>2026).
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