Resultados da busca - Sondheimer, Neal
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Mitochondrial genetic diseases por Falk, Marni J., Sondheimer, Neal
Publicado em 2010Texto -
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DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis por Veenma, Danielle, Cordeiro, Dawn, Sondheimer, Neal, Mercimek-Andrews, Saadet
Publicado em 2018Texto -
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Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP por Sonney, Sanjay, Leipzig, Jeremy, Lott, Marie T., Zhang, Shiping, Procaccio, Vincent, Wallace, Douglas C., Sondheimer, Neal
Publicado em 2017Texto -
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Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma por Hannah-Shmouni, Fady, MacNeil, Lauren, Lara-Corrales, Irene, Pope, Elena, Kannu, Peter, Sondheimer, Neal
Publicado em 2019Texto