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Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype,
Posted on by BMJ in Uncategorized
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GENOTYPE-PHENOTYPE STUDY OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 3,
Posted on by BMJ in Uncategorized
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What did we learn from the genome-wide association study for tuberculosis susceptibility?,
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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TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome,
Posted on by BMJ in Uncategorized
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The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen,
Posted on by BMJ in Uncategorized
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Mosaic trisomy 13: understanding origin using SNP array,
Posted on by BMJ in Uncategorized
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Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism,
Posted on by BMJ in Uncategorized
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Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair,
Posted on by BMJ in Uncategorized
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Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome,
Posted on by BMJ in Uncategorized
