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The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain,
Posted on by BMJ in Uncategorized
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Mutations in the Mitochondrial Complex I Assembly Factor NDUFAF1 Cause Fatal Infantile Hypertrophic Cardiomyopathy,
Posted on by BMJ in Uncategorized
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Setleis Syndrome in Mexican-Nahua Sibs Due to a Homozygous TWIST2 Frameshift Mutation and Partial Expression in Heterozygotes: Review of the Focal Facial Dermal Dysplasias and Subtype Reclassification,
Posted on by BMJ in Uncategorized
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AKAP9-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium,
Posted on by BMJ in Uncategorized
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A role for XRCC2 gene polymorphisms in breast cancer risk and survival,
Posted on by BMJ in Uncategorized
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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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Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact,
Posted on by BMJ in Uncategorized
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Maternally transmitted late-onset nonsyndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene,
Posted on by BMJ in Uncategorized
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Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation,
Posted on by BMJ in Uncategorized
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Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling,
Posted on by BMJ in Uncategorized
