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Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression,
Posted on by BMJ in Uncategorized
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Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.,
Posted on by BMJ in Uncategorized
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A bias-reducing pathway enrichment analysis of genome-wide association data confirmed association of the MHC region with schizophrenia,
Posted on by BMJ in Uncategorized
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A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation,
Posted on by BMJ in Uncategorized
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Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study,
Posted on by BMJ in Uncategorized
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Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis,
Posted on by BMJ in Uncategorized
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Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation,
Posted on by BMJ in Uncategorized
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Defective NDUFA9 as a novel cause of neonatally fatal complex I disease,
Posted on by BMJ in Uncategorized
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Neonatal onset Autosomal Dominant Polycystic Kidney Disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy,
Posted on by BMJ in Uncategorized
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Linkage and association analyses of glaucoma related traits in a large pedigree from a Dutch genetically isolated population,
Posted on by BMJ in Uncategorized
