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Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles,
Posted on by BMJ in Uncategorized
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A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia, and alacrima,
Posted on by BMJ in Uncategorized
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CEP78 is mutated in a distinct type of Usher syndrome,
Posted on by BMJ in Uncategorized
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Common cancers share familial susceptibility: Implications for cancer genetics and counseling,
Posted on by BMJ in Uncategorized
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Anxiety delivered Direct-to-Consumer: are we asking the right questions about the impacts of DTC genetic testing?,
Posted on by BMJ in Uncategorized
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Carriers of a VEGFA enhancer polymorphism selectively binding CHOP/DDIT3 are predisposed to increased circulating levels of thyroid-stimulating hormone,
Posted on by BMJ in Uncategorized
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CEP78 is mutated in a distinct type of Usher syndrome,
Posted on by BMJ in Uncategorized
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Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders,
Posted on by BMJ in Uncategorized
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KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability,
Posted on by BMJ in Uncategorized
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Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO,
Posted on by BMJ in Uncategorized
