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Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature,
Posted on by BMJ in Uncategorized
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mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing,
Posted on by BMJ in Uncategorized
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SeqHBase: a big data toolset for family-based sequencing data analysis,
Posted on by BMJ in Uncategorized
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The twisting tale of woolly hair: a trait with many causes,
Posted on by BMJ in Uncategorized
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ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder,
Posted on by BMJ in Uncategorized
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Novel role for non-homologous end joining in the formation of double minutes in methotrexate-resistant colon cancer cells,
Posted on by BMJ in Uncategorized
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Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes,
Posted on by BMJ in Uncategorized
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MED25 and intellectual disability: from the backlands to the forefront of science,
Posted on by BMJ in Uncategorized
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Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis,
Posted on by BMJ in Uncategorized
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Mendelian Randomization Applied to Drug Development in Cardiovascular Disease: A Review,
Posted on by BMJ in Uncategorized
