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Studying the epigenome using next generation sequencing,
Posted on by BMJ in Uncategorized
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Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum,
Posted on by BMJ in Uncategorized
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Studying the epigenome using next generation sequencing,
Posted on by BMJ in Uncategorized
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Combined Malonic and Methylmalonic Aciduria (CMAMMA): Exome Sequencing Reveals Mutations in the ACSF3 gene in Patients with a Non-classical Phenotype,
Posted on by BMJ in Uncategorized
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Association of a genetic variant of BTN2A1 with metabolic syndrome in East Asian populations,
Posted on by BMJ in Uncategorized
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Patient’s perspective on the revised Ghent nosology for Mafan syndrome,
Posted on by BMJ in Uncategorized
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Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch-syndrome,
Posted on by BMJ in Uncategorized
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Identification of quantitative trait loci for murine autoimmune pancreatitis,
Posted on by BMJ in Uncategorized
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Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon,
Posted on by BMJ in Uncategorized
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Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27,
Posted on by BMJ in Uncategorized
