Resultados de búsqueda - Pyle, Angela
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Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering por Daud, Daniyal, Griffin, Helen, Douroudis, Konstantinos, Kleinle, Stephanie, Eglon, Gail, Pyle, Angela, Chinnery, Patrick F., Horvath, Rita
Publicado 2015Texto -
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Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency por Boczonadi, Veronika, Smith, Paul M., Pyle, Angela, Gomez-Duran, Aurora, Schara, Ulrike, Tulinius, Mar, Chinnery, Patrick F., Horvath, Rita
Publicado 2013Texto -
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Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans por Pyle, Angela, Hudson, Gavin, Wilson, Ian J., Coxhead, Jonathan, Smertenko, Tania, Herbert, Mary, Santibanez-Koref, Mauro, Chinnery, Patrick F.
Publicado 2015Texto -
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Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB por Keogh, Michael J., Pyle, Angela, Daud, Daniyal, Griffin, Helen, Douroudis, Konstantinos, Eglon, Gail, Miller, James, Horvath, Rita, Chinnery, Patrick F.
Publicado 2015Texto -
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Reduced CSF mitochondrial DNA is a biomarker for early-stage Parkinson’s disease por Pyle, Angela, Brennan, Rebecca, Kurzawa-Akanbi, Marzena, Yarnall, Alison, Thouin, Anais, Mollenhauer, Brit, Burn, David, Chinnery, Patrick F., Hudson, Gavin
Publicado 2015Texto