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Streamlining review of research involving humans: Canadian models,
Posted on by BMJ in Uncategorized
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Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type,
Posted on by BMJ in Uncategorized
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Contribution of the low-frequency, loss-of-function p.R270H mutation in FFAR4 (GPR120) to increased fasting plasma glucose levels,
Posted on by BMJ in Uncategorized
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Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder,
Posted on by BMJ in Uncategorized
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A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome,
Posted on by BMJ in Uncategorized
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MET variant and human hearing loss,
Posted on by BMJ in Uncategorized
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A germline mutation in PBRM1 predisposes to renal cell carcinoma,
Posted on by BMJ in Uncategorized
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Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer,
Posted on by BMJ in Uncategorized
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Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations,
Posted on by BMJ in Uncategorized
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Loss-of-function de novo mutations play an important role in severe human neural tube defects,
Posted on by BMJ in Uncategorized
