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1 ive patients with CIE and three with classic lamellar ichthyosis.
2 previously for another "scaffold disorder", lamellar ichthyosis.
3 utaminase 1 enzyme (TGase 1) activity causes lamellar ichthyosis.
4 idered a spectrum of phenotypes with classic lamellar ichthyosis at one pole and classic congenital i
5 tations, deletions, and truncations found in lamellar ichthyosis disease affect the structure and fun
8 in the transglutaminase-1 gene as a cause of lamellar ichthyosis implicates transglutaminases in othe
9 the transglutaminase 1 gene are the cause of lamellar ichthyosis in this family, and illustrate an em
12 ription in normal epidermis and in a case of lamellar ichthyosis lacking transglutaminase 1 activity.
14 A knockdown of the principle gene mutated in lamellar ichthyosis (LI), transglutaminase-1, in rat ker
15 ongenital ichthyosiform erythroderma, n = 6; lamellar ichthyosis, n = 7; epidermolytic ichthyosis, n
18 provide insights into the pathophysiology of lamellar ichthyosis resulting from defects of TGase 1 en
20 e found to underlie Harlequin ichthyosis and lamellar ichthyosis, two devastating skin disorders.
22 hthyosis without internal organ involvement, lamellar ichthyosis, which is characterized by minimal e
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