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Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia,
Posted on by BMJ in Uncategorized
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Naturally occurring BRCA2 alternate mRNA splicing events in clinically relevant samples,
Posted on by BMJ in Uncategorized
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Germline RRAS2 Mutations are not associated with Noonan Syndrome,
Posted on by BMJ in Uncategorized
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Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels,
Posted on by BMJ in Uncategorized
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Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations,
Posted on by BMJ in Uncategorized
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AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis,
Posted on by BMJ in Uncategorized
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Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain,
Posted on by BMJ in Uncategorized
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Circular RNAs: a new frontier in the study of human diseases,
Posted on by BMJ in Uncategorized
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Risky Business: Getting a Grip on BRIP,
Posted on by BMJ in Uncategorized
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Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel,
Posted on by BMJ in Uncategorized
