SYT1-associated neurodevelopmental disorder: a case series
Kate Baker, Sarah L Gordon, Holly Melland et al. · Brain · 2018 · Case report
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Biochemistry, Genetics and Molecular Biology
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Gut inflammation and dysbiosis in human motor neuron disease
Julie Rowin, Yinglin Xia, Barbara Jung et al. · Physiological Reports · 2017 · Case report
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Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3
Lindsey Van Haute, Sabine Dietmann, Laura Kremer et al. · Nature Communications · 2016 · Case report
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Corrected FLAGS, frequently mutated genes in public exomes
Casper Shyr, Maja Tarailo-Graovac, Michael Gottlieb et al. · BMC Medical Genomics · 2014 · Case report
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Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
Denise Horn, Johannes Kapeller, Núria Rivera-Brugués et al. · Human Mutation · 2010 · Case report
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Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032
Jill C Rubinstein, Mario Sznol, Anna C Pavlick et al. · Journal of Translational Medicine · 2010 · Case report
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