Konu "genetic screening" için Fakülteler listeleme
Toplam kayıt 2, listelenen: 1-2
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A database for screening and registering late onset Pompe disease in Turkey
(Elsevier Ltd, 2018)The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a ... -
Next-generation screening of a panel of genes associated with periodic fever syndromes in patients with Familial Mediterranean Fever and their clinical characteristics
(Academic Press Inc., 2020)Familial Mediterranean Fever (FMF) is a hereditary fever syndrome that primarily affects Mediterranean populations. For the study, total number of 182 patients with FMF disease were enrolled and screening of a panel of ...