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Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia
Download from doi.orgCorner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies
Download from europepmc.orgEpilepsy in KCNH1-related syndromes
UploadAdult presentation of X-linked Conradi-Hünermann-Happle syndrome
Download from www.ncbi.nlm.nih.govFBN1 Contributing to Familial Congenital Diaphragmatic Hernia
Download from www.researchgate.netArgininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis
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