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No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells,
Posted on by BMJ in Uncategorized
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Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy,
Posted on by BMJ in Uncategorized
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Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B,
Posted on by BMJ in Uncategorized
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Precise long non-coding RNA modulation in visual maintenance and impairment,
Posted on by BMJ in Uncategorized
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Diagnostic value of exome and whole genome sequencing in craniosynostosis,
Posted on by BMJ in Uncategorized
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Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix,
Posted on by BMJ in Uncategorized
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Genome-wide association study identifies variants in HORMAD2 associated with tonsillectomy,
Posted on by BMJ in Uncategorized
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A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome,
Posted on by BMJ in Uncategorized
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The importance of dynamic re-analysis in diagnostic whole exome sequencing,
Posted on by BMJ in Uncategorized
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Diagnostic value of exome and whole genome sequencing in craniosynostosis,
Posted on by BMJ in Uncategorized
