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Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects,
Posted on by BMJ in Uncategorized
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A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B,
Posted on by BMJ in Uncategorized
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Bilateral vestibular schwannomas in older patients: NF2 or chance?,
Posted on by BMJ in Uncategorized
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A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype,
Posted on by BMJ in Uncategorized
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BRCA1 Circos: a visualisation resource for functional analysis of missense variants,
Posted on by BMJ in Uncategorized
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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing,
Posted on by BMJ in Uncategorized
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DCAF4, a novel gene associated with leucocyte telomere length,
Posted on by BMJ in Uncategorized
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MuSK – a novel gene for fetal death,
Posted on by BMJ in Uncategorized
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Mutation in RNF113A that shines a new light on trichothiodystrophy,
Posted on by BMJ in Uncategorized
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Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1,
Posted on by BMJ in Uncategorized
