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5 e StAR gene result in the disease congenital lipoid adrenal hyperplasia, in which steroid hormone bio
7 ateral clouding of the central cornea, arcus lipoides and/or visible crystalline deposits of choleste
8 AR amino acid replacement mutants that cause lipoid CAH are inactive because of fairly gross errors i
10 order lipoid congenital adrenal hyperplasia (lipoid CAH), we used targeted gene disruption to produce
12 velop an animal model for the human disorder lipoid congenital adrenal hyperplasia (lipoid CAH), we u
13 A point mutant of StAR (A218V) that causes lipoid congenital adrenal hyperplasia was incorporated i
14 s are given for the determination of how the lipoid content, composition, and structure of individual
15 Applications of the procedure to cationic lipoid-DNA complexes are described, and illustrations ar
18 ease who presented with extensive endogenous lipoid pneumonia and life-threatening hypoxia following
19 We present a rare case of acute exogenous lipoid pneumonia in a fire-eater who aspirated liquid pa
27 ed with a slightly more severe mucocutaneous lipoid proteinosis phenotype, but neurological features
30 d ECM1 in 10 further unrelated patients with lipoid proteinosis to extend genotype-phenotype correlat
31 e expression profile of a variant causal for lipoid proteinosis, and with a simulation study to asses
32 al similarities between lichen sclerosus and lipoid proteinosis, which results from mutations in extr
36 saturated (Phospholipon 90H) or unsaturated (Lipoid S100) phospholipids and characterized for size, p
37 , Phospholipon 90H) and unsaturated soybean (Lipoid S100) phospholipids, in combination with choleste
40 to C18:0/C10-EPC (and to many other cationic lipoids) was suggested by the phases that evolved when t
41 gested by the phases that evolved when these lipoids were mixed with negatively charged membrane lipi
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