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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
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b3galt6 knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
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- Journal Article
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- open access
b3galt6 Knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region