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Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour,
Posted on by BMJ in Uncategorized
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Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease,
Posted on by BMJ in Uncategorized
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Follow Journal of Medical Genetics on Twitter,
Posted on by BMJ in Uncategorized
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The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells,
Posted on by BMJ in Uncategorized
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FOXN1 mutation abrogates prenatal T-cell development in humans,
Posted on by BMJ in Uncategorized
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Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways,
Posted on by BMJ in Uncategorized
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Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?,
Posted on by BMJ in Uncategorized
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Germline PALB2 mutation analysis in breast–pancreas cancer families,
Posted on by BMJ in Uncategorized
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Call for Abstracts/Papers, Fourth Summit on Systems Biology, June 15-17, Richmond, Virginia, USA,
Posted on by BMJ in Uncategorized
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Kearns-Sayre syndrome caused by defective R1/p53R2 assembly,
Posted on by BMJ in Uncategorized
