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Criteria and prediction models for mismatch repair gene mutations: a review,
Posted on by BMJ in Uncategorized
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Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing,
Posted on by BMJ in Uncategorized
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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis,
Posted on by BMJ in Uncategorized
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A novel statistical approach for RNA-seq data,
Posted on by BMJ in Uncategorized
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CAG-SIZE SPECIFIC RISK ESTIMATES FOR INTERMEDIATE ALLELE REPEAT INSTABILITY IN HUNTINGTON DISEASE,
Posted on by BMJ in Uncategorized
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Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing,
Posted on by BMJ in Uncategorized
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Confirmation of papillary thyroid cancer susceptibility loci identified by genome-wide association studies of chromosomes 14q13, 9q22, 2q35 and 8p12 in a Chinese population,
Posted on by BMJ in Uncategorized
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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing,
Posted on by BMJ in Uncategorized
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Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome,
Posted on by BMJ in Uncategorized
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Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size,
Posted on by BMJ in Uncategorized
