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An Italian association study and meta-analysis with previous GWAS confirm WNT4, CDKN2BAS and FN1 as the first identified susceptibility loci for endometriosis,
Posted on by BMJ in Uncategorized
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Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus,
Posted on by BMJ in Uncategorized
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Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis,
Posted on by BMJ in Uncategorized
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Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna Hereditary Hypotrichosis,
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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders,
Posted on by BMJ in Uncategorized
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De novo copy number variants are associated with congenital diaphragmatic hernia,
Posted on by BMJ in Uncategorized
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Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia,
Posted on by BMJ in Uncategorized
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Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation,
Posted on by BMJ in Uncategorized
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A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm,
Posted on by BMJ in Uncategorized
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Distinct and replicable genetic risk factors for acute respiratory distress syndrome of pulmonary or extrapulmonary origin,
Posted on by BMJ in Uncategorized
