Revisiting mitochondrial diagnostic criteria in the new era of genomics.

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Revisiting mitochondrial diagnostic criteria in the new era of genomics.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Revisiting mitochondrial diagnostic criteria in the new era of genomics.

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Revisiting mitochondrial diagnostic criteria in the new era of genomics.

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Revisiting mitochondrial diagnostic criteria in the new era of genomics.

@en

Revisiting mitochondrial diagnostic criteria in the new era of genomics.

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Revisiting mitochondrial diagnostic criteria in the new era of genomics.

@en

Revisiting mitochondrial diagnostic criteria in the new era of genomics.

@nl

P1476

Revisiting mitochondrial diagnostic criteria in the new era of genomics.

@en

P2093

Amy Goldstein

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Ann Saada

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Eva Morava

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Peter Witters

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Stephanie Kleinle

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Tomas Honzik

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P2860

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A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging.

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

The epidemiology of mitochondrial disorders--past, present and future.

P2888

gim.2017.125

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444-451

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scholarly article

P356

10.1038/GIM.2017.125

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P407

English

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P478

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Rita Horvath

Marketa Tesarova

P577

2017-10-26T00:00:00Z

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P6179

1092348345

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29261183

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