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CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women,
Posted on by BMJ in Uncategorized
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Genetic basis of pain variability: recent advances,
Posted on by BMJ in Uncategorized
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Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions,
Posted on by BMJ in Uncategorized
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Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome,
Posted on by BMJ in Uncategorized
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Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity,
Posted on by BMJ in Uncategorized
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Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions,
Posted on by BMJ in Uncategorized
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Genetic diagnosis of Duchenne muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform,
Posted on by BMJ in Uncategorized
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Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers,
Posted on by BMJ in Uncategorized
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New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases,
Posted on by BMJ in Uncategorized
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Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes,
Posted on by BMJ in Uncategorized
