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Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia,
Posted on by BMJ in Uncategorized
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Autism traits in the RASopathies,
Posted on by BMJ in Uncategorized
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Direct-to-consumer pharmacogenomic testing is associated with increased physician utilisation,
Posted on by BMJ in Uncategorized
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Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations,
Posted on by BMJ in Uncategorized
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Correlation between FMR1 expression and clinical phenotype in discordant dichorionic–diamniotic monozygotic twin sisters with the fragile x mutation,
Posted on by BMJ in Uncategorized
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Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis,
Posted on by BMJ in Uncategorized
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The spectrum of RB1 mutations identified in 403 retinoblastoma patients,
Posted on by BMJ in Uncategorized
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3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder,
Posted on by BMJ in Uncategorized
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Association analyses identifying two common susceptibility loci shared by psoriasis and systemic lupus erythematosus in the Chinese Han population,
Posted on by BMJ in Uncategorized
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Genetic variants in CHI3L1 influencing YKL-40 levels: resequencing 900 individuals and genotyping 9000 individuals from the general population,
Posted on by BMJ in Uncategorized
