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Deletions of 5′ HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus,
Posted on by BMJ in Uncategorized
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CRISPR-Cas9 for medical genetic screens: applications and future perspectives,
Posted on by BMJ in Uncategorized
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Local genotype influences DNA methylation at two asthma-associated regions, 5q31 and 17q21, in a founder effect population,
Posted on by BMJ in Uncategorized
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Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration,
Posted on by BMJ in Uncategorized
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The Regulatory Element READ1 Epistatically Influences Reading and Language, with both Deleterious and Protective Alleles,
Posted on by BMJ in Uncategorized
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Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases,
Posted on by BMJ in Uncategorized
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Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins,
Posted on by BMJ in Uncategorized
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Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family,
Posted on by BMJ in Uncategorized
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Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome,
Posted on by BMJ in Uncategorized
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UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN,
Posted on by BMJ in Uncategorized
