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Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes,
Posted on by BMJ in Uncategorized
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CTNND2—a candidate gene for reading problems and mild intellectual disability,
Posted on by BMJ in Uncategorized
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Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement,
Posted on by BMJ in Uncategorized
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Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome,
Posted on by BMJ in Uncategorized
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Next-generation sequencing of nine atrial fibrillation candidate genes identified novel de novo mutations in patients with extreme trait of atrial fibrillation,
Posted on by BMJ in Uncategorized
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Pseudogene in Cancer: Real Functions and Promising Signature,
Posted on by BMJ in Uncategorized
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Differential increase of specific FMR1 mRNA isoforms in premutation carriers,
Posted on by BMJ in Uncategorized
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MUTATIONS IN THE TRICARBOXYLIC ACID CYCLE ENZYME, ACONITASE 2, CAUSE EITHER ISOLATED OR SYNDROMIC OPTIC NEUROPATHY WITH ENCEPHALOPATHY AND CEREBELLAR ATROPHY,
Posted on by BMJ in Uncategorized
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International requirements for consent in biobank research. Qualitative review of research guidelines,
Posted on by BMJ in Uncategorized
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Recent advances in primary ciliary dyskinesia genetics,
Posted on by BMJ in Uncategorized
