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A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups,
Posted on by BMJ in Uncategorized
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ADAP2 in heart development: a candidate gene for the occurrence of Cardiovascular Malformations in NF1 Microdeletion Syndrome,
Posted on by BMJ in Uncategorized
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Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia,
Posted on by BMJ in Uncategorized
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RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients,
Posted on by BMJ in Uncategorized
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Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair,
Posted on by BMJ in Uncategorized
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Genome-wide association study identifies new disease loci for isolated clubfoot,
Posted on by BMJ in Uncategorized
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Mapping of hepatic expression quantitative trait loci (eQTLs) in a Han Chinese population,
Posted on by BMJ in Uncategorized
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CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles,
Posted on by BMJ in Uncategorized
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Prenylation defects in inherited retinal diseases,
Posted on by BMJ in Uncategorized
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Normal and aberrant splicing of LMNA,
Posted on by BMJ in Uncategorized
