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Human Genetics and Genomics Advances - 2020
5 articles | Last updated: 2025-12-03 14:12:57
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Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis
Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia
An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid