نتایج جستجو برای: unknown mutations
تعداد نتایج: 374830 فیلتر نتایج به سال:
the present research study attempted to find out the extent to which two pre-task activities of “glossary of unknown vocabulary items” and “content related support” assisted efl language learners with their performance on listening comprehension questions across two different proficiency levels (low and high). data for this study were obtained from a total of 120 language learners, female and m...
تب پاسخی پیچیده، خودمختار، عصبی و هماهنگ شده است و تقریبا در تمامی حیوانات مهره دار بخشی از واکنش سیستم ایمنی در مراحل حاد به شمار می رود. اگرچه تب در نتیجه عوامل عفونت زا و یا در بیماریهای التهابی غیر عفونی بروز می نماید، معمولا ظهورش مستقل از عامل بوجود آورنده آن رخ می دهد
I N 1994 AIR FORCE Special Opera tions Com mand stood up the 6th Special Op era tions Squadron (6 SOS), the first- ever USAF squadron dedicated to the for eign inter nal defense (FID) mission area. With roots in special air warfare dating back to the Vietnam War and even as far back as the Second World War, the 6 SOS was created to advise, train, and assist for eign aviation forces in the ap...
Three genotypically suppressible alleles, a1X4, alcA125, and niaD500, are phenotypically suppressed by aminoglycoside antibiotics. Unsuppressible alleles at these loci are unaffected as are known missense mutations at the yA and gdhA loci. This is consistent with the premise that the suppressible mutations are nonsense and that this highly-allele-specific phenotypic suppression can be used to d...
Background: Aim of the study was to evaluate spectrum genetic variations in young cancer patients presenting tertiary center Methods: All newly diagnosed with medical oncology OPD at continental hospitals between November 2021 till July 2023 were analyzed. Multigene panel testing (56 genes) by next-generation sequencing performed for all patients. Demographics and clinical characters represente...
BACKGROUND Familial hemophagocytic lymphohistiocytosis (FHL) is a rare disease of infancy or early childhood. To clarify the incidence and subtypes of FHL in Japan, we performed genetic and functional analyses of cytotoxic T lymphocytes (CTLs) in Japanese patients with FHL. DESIGN AND METHODS Among the Japanese children with hemophagocytic lymphohistiocytosis (HLH) registered at our laborator...
Several point mutations in the mouse profoundly affect the metabolic characteristics of the animal. As examples may be cited the "muscular dystrophy" mutation (dy), the "obese" and "diabetes" mutations (ob,db), the "yellow" mutations (AY,AVy,etc.) at the agouti locus, the two "pituitary dwarf" mutations (dw,df), and several mutations affecting body size, e.g., "pygmy" (pg) (1). In none of these...
Both clonal hematopoiesis of indeterminate potential (CHIP) and atrial fibrillation (AF) are age-related conditions. CHIP is associated with increased cardiovascular disease risk, contributing to AF development. However, the association between unknown. To investigate prevalence mutations in patients their clinical characteristics differentiated by CHIP. Deep-targeted sequencing 24 was performe...
BACKGROUND Idiopathic dilated cardiomyopathy (DCM) is the most frequent indication for orthotopic heart transplantation. It has been suggested that mutations in genes encoding desmosomal proteins, more typically associated with arrhythmogenic right ventricular cardiomyopathy, are a cause of DCM. OBJECTIVES To determine the frequency of desmosomal protein gene mutations in heart transplant rec...
Autosomal recessive non-syndromic hearing impairment (ARNSHI) is caused by mutations in the gap junction gene GJB2 (Connexin 26; Cx26) in numerous human populations. The aim of this study was to determine the frequency of six GJB2 mutations in 50 Syrian families with congenital deafness and in 180 controls. PCR-RFLP was used to detect the 35delG, 167delT, M34T, W24X, W77R and E47X mutations, an...
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