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A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia,
Posted on by BMJ in Uncategorized
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Human transgenerational responses to early-life experience: potential impact on development, health and biomedical research,
Posted on by BMJ in Uncategorized
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Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance,
Posted on by BMJ in Uncategorized
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Long-term prospective clinical follow-up after BRCA1/2 presymptomatic testing: BRCA2 risks higher than in adjusted retrospective studies,
Posted on by BMJ in Uncategorized
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High Risk of Tobacco-Related Cancers in CDKN2A Mutation-Positive Melanoma Families,
Posted on by BMJ in Uncategorized
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A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population,
Posted on by BMJ in Uncategorized
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Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6,
Posted on by BMJ in Uncategorized
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Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly,
Posted on by BMJ in Uncategorized
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A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma,
Posted on by BMJ in Uncategorized
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A familial disorder of altered DNA-methylation,
Posted on by BMJ in Uncategorized
