نتایج جستجو برای: spondyloepiphyseal dysplasia
تعداد نتایج: 28617 فیلتر نتایج به سال:
Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations. These patients had been given a ...
BACKGROUND The majority of COL2A1 missense mutations are substitutions of obligatory glycine residues in the triple helical domain. Only a few non-glycine missense mutations have been reported and among these, the arginine to cysteine substitutions predominate. OBJECTIVE To investigate in more detail the phenotype resulting from arginine to cysteine mutations in the COL2A1 gene. METHODS The...
J. Widmann Dear Customer UserCom is becoming more and more popular. In the last edition, we made a number of improvements to the layout and have now decided to print a Spanish version in addition to the English, German and French editions. On the last page, we would like to introduce the METTLER TOLEDO editorial team. The name of the author is now noted along with the title of each article. Inf...
Winter behavior of bats and the progression of white‐nose syndrome in the southeastern United States
Understanding the winter behavior of bats in temperate North America can provide insight into how bats react to perturbations caused by natural disturbances such as weather, human-induced disturbances, or the introduction of disease. This study measured the activity patterns of bats outside of their hibernaculum and asked how this winter activity varied by time, temperature, bat species, body c...
AIM The purpose of this study was to investigate the relationship between physical workload and injury risk in elite youth football players. METHODS The workload data and injury incidence of 32 players were monitored throughout 2 seasons. Multiple regression was used to compare cumulative (1, 2, 3 and 4-weekly) loads and acute:chronic (A:C) workload ratios (acute workload divided by chronic w...
PURPOSE The aims of this study were to suggest a method of fabrication of the record base using a light-polymerized resin by applying the two-phase fabrication method for the improvement of the fit of the record base and to compare the degree of fit according to the separation site. MATERIALS AND METHODS In the edentulous cast of maxilla, four test groups were considered. In the first, second...
Measuring the contrast sensitivity function (CSF) in the periphery of the eye is complicated. The lengthy measurement time precludes all but the most determined subjects. The aim of this study was to implement and evaluate a faster routine based on the quick CSF method (qCSF) but adapted to work in the periphery. Additionally, normative data is presented on neurally limited peripheral CSFs. A p...
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