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Syntaxin-18 defects in human and zebrafish cause traffic jams and unravel key roles in early bone development
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Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.169-169 -
The International Consortium on the Ehlers-Danlos Syndromes
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The 2017 International Classification of the Ehlers-Danlos Syndromes
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Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa
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EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta