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Charcot–Marie–Tooth diseases: an update and some new proposals for the classification,
Posted on by BMJ in Uncategorized
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Mutations in COQ4, an Essential Component of Coenzyme Q Biosynthesis, Cause Lethal Neonatal Mitochondrial Encephalomyopathy,
Posted on by BMJ in Uncategorized
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Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans,
Posted on by BMJ in Uncategorized
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A CASQ1 founder mutation in 3 Italian families with protein aggregate myopathy and hyperCKaemia,
Posted on by BMJ in Uncategorized
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Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism,
Posted on by BMJ in Uncategorized
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Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid,
Posted on by BMJ in Uncategorized
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Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families,
Posted on by BMJ in Uncategorized
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Combined Mineralocorticoid and Glucocorticoid deficiency is caused by a novel founder Nicotinamide Nucleotide Transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress,
Posted on by BMJ in Uncategorized
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Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement,
Posted on by BMJ in Uncategorized
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Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus,
Posted on by BMJ in Uncategorized
