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Neurofibromatosis type 1: from genotype to phenotype,
Posted on by BMJ in Uncategorized
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A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?,
Posted on by BMJ in Uncategorized
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Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature,
Posted on by BMJ in Uncategorized
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Submit your paper to the Journal of Medical Genetics today!,
Posted on by BMJ in Uncategorized
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Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer,
Posted on by BMJ in Uncategorized
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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog,
Posted on by BMJ in Uncategorized
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Translational Genomic Medicine: Common Metabolic Traits and Ancestral Components of Mexican Americans,
Posted on by BMJ in Uncategorized
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The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome,
Posted on by BMJ in Uncategorized
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Prostate cancer risk assessment model: a scoring model based on the Swedish Family-Cancer Database,
Posted on by BMJ in Uncategorized
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Mutations in GRIP1 cause Fraser syndrome,
Posted on by BMJ in Uncategorized
