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CTCF deletion syndrome: clinical features and epigenetic delineation,
Posted on by BMJ in Uncategorized
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Genetic Severity Score predicts clinical phenotype in NF2,
Posted on by BMJ in Uncategorized
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Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy,
Posted on by BMJ in Uncategorized
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Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant,
Posted on by BMJ in Uncategorized
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Their loss is our gain: regressive evolution in vertebrates provides genomic models for uncovering human disease loci,
Posted on by BMJ in Uncategorized
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Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability,
Posted on by BMJ in Uncategorized
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Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability,
Posted on by BMJ in Uncategorized
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A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct,
Posted on by BMJ in Uncategorized
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Increased Breast Cancer Risk in MSH2 Carriers from a Large Canadian Familial Cancer Registry,
Posted on by BMJ in Uncategorized
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Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders,
Posted on by BMJ in Uncategorized
