نتایج جستجو برای: unknown mutations
تعداد نتایج: 374830 فیلتر نتایج به سال:
results we identified no mutations in these patients in the three screened positions. conclusions to ensure that these genes play no role in the disease, evaluation of the non-coding regions of both the cyp1b1 and myoc genes is strongly recommended, since other genes are involved in the pathogenesis of glaucoma. patients and methods forty patients with poag were recruited from the ophthalmic di...
background: germ-line mutations of brca1 and brca2 genes are responsible for approximately 25-30% of dominantly inherited familial breast cancers; still a big part of genetic component is unknown. the aim of this study was to investigate genetic causes of familial breast cancer in a pedigree with recessive pattern of inheritance. methods: we applied exome sequencing as a useful approach in hete...
how to cite this article: tonekaboni sh, ebrahimi a, bakhshandeh bali mk, houshmand m, moghaddasi m, taghdiri mm, nasehi mm. sodium channel gene mutations in children with gefs + and dravet syndrome: a cross sectional study. iran j child neurol. 2013 winter; 7 (1):25-29. objective dravet syndrome or severe myoclonic epilepsy of infancy (smei) is a baleful epileptic encephalopathy that begins ...
Abstract Background: Many disease susceptibility genes are large and consist of many exons in which point mutations are scattered throughout. Scanning each exon individually represents a tedious task which can be time consuming and expensive. There has been increasing demand for rapid and accurate methods for full scanning of unknown point mutations in large multi-exon genes. Gene Assembling i...
abstract this study examines the effect of teaching lexical inferencing strategies on developing reading comprehension skill of iranian advanced efl learners. participants were female students of meraj and shokouh institudes of garmsar a quasi-experimental design using two intact advanced classes of efl students at meraj and shokouh institutes. as the first step, a general toefl proficiency te...
this study investigates the effect of teacher’s repetition as an input enhancement technique in explicit teaching of vocabulary items on efl learners’ later retrieval. to this end, 66 persian speaking english learners, aged 18 - 29, homogenized through a standard proficiency test (opt), were chosen and put into two experimental and control groups, each 33 learners. general service list (gsl), a...
conclusions presence of drug resistance mutations among the patients was significant. precore mutations were common amongst iranian hbv chronic carriers under lamivudine therapy and these mutations were accompanied by clinical relapse. patients and methods sequential sera were obtained from 88 chronic hbv carriers who received lamivudine for more than 24 months. polymerase and precore regions w...
neonatal diabetes mellitus (ndm) is a rare kind of diabetes characterized by hyperglycemia and low levels of insulin. clinically, it is categorized into two main types: transient ndm (tndm) and permanent ndm (pndm). these types are diagnosed based on duration of insulin dependence early in the disease. in tndm, diabetes begins in the first few weeks of life with remission in a few months. howev...
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