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Clinical, histological and genetic characterization of patients with tubular aggregate myopathy caused by mutations in STIM1,
Posted on by BMJ in Uncategorized
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OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium,
Posted on by BMJ in Uncategorized
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Defining and managing incidental findings in genetic and genomic practice,
Posted on by BMJ in Uncategorized
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Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis,
Posted on by BMJ in Uncategorized
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The 2014 International Conference on Intelligent Biology and Medicine,
Posted on by BMJ in Uncategorized
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Genotype phenotype associations across the voltage-gated sodium channel family,
Posted on by BMJ in Uncategorized
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Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy,
Posted on by BMJ in Uncategorized
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The clinical significance of small copy number variants in neurodevelopmental disorders,
Posted on by BMJ in Uncategorized
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Comprehensive genotype phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation,
Posted on by BMJ in Uncategorized
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Genetic architectures of ADME genes in five Eurasian admixed populations and implications for drug safety and efficacy,
Posted on by BMJ in Uncategorized
