نتایج جستجو برای: سرریز منحنی پیوند wes
تعداد نتایج: 27344 فیلتر نتایج به سال:
کاهش هزینه طرح ، داشتن کنترل بر روی آب پایین دست و کاهش بیشینه سیلاب خروجی از فواید بهره گرفتن از سرریز های دریچه دار می باشد. علی رغم اهمیت موضوع کمبود مطالعاتی در زمینه بررسی وضعیت فشار موجود بر روی پروفیل بتنی سرریز بعد از دریچه نیمه باز مشاهده گردید. از این رو در تحقیق حاضر، سعی شده با استفاده از مدل عددی، به بررسی بیشتر این موضوع پرداخته شود. جهت نیل به این هدف، در ابتدا نرم افزارهای عدد...
Inherited retinal dystrophies (IRDs) are Mendelian diseases with tremendous genetic and phenotypic heterogeneity. Identification of the underlying genetic basis of these dystrophies is therefore challenging. In this study we employed whole exome sequencing (WES) in 11 families with IRDs and identified disease-causing variants in 8 of them. Sequence analysis of about 250 IRD-associated genes rev...
OBJECTIVE To explore the diagnostic utility and cost effectiveness of whole exome sequencing (WES) in a cohort of individuals with peripheral neuropathy. METHODS Singleton WES was performed in individuals recruited though one pediatric and one adult tertiary center between February 2014 and December 2015. Initial analysis was restricted to a virtual panel of 55 genes associated with periphera...
Whole-exome sequencing (WES) has been widely used for analysis of human genetic diseases, but its value for the pharmacogenomic profiling of individuals is not well studied. Initially, we performed an in-depth evaluation of the accuracy of WES variant calling in the pharmacogenes CYP2D6 and CYP2C19 by comparison with MiSeq(®) amplicon sequencing data (n = 36). This analysis revealed that the co...
BACKGROUND/OBJECTIVES: A capillary western blot (Wes) technology has recently been validated for analyses of cell culture lysate proteins, but whether it is reliable for human tissue proteins is unknown. SUBJECTS: We compared traditional western blotting to the Wes capillary Western method to quantitate the relative amount of human adipose tissue CD36, the ratio of phosphorylated Erk1/2 (pErk1/...
BACKGROUND Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called "diagnostic odysseys". Previous studies have provided strong evidence for increased diagnostic and clinical utility of whole-exome sequencing in medical genetics. However, specific reports assessing its utility in a setting such...
This study evaluates three versions of the Wayfinding Effectiveness Scale (WES), developed to differentiate problems of wayfinding and wandering behavior of community-residing elders with dementia (EWD), in 266 dyads (EWD and caregiver) recruited from Alzheimer's Association chapters. Factor analyses yield a five-factor solution (explained variance = 62.6%): complex wayfinding goals, analytic s...
The recent development of massively parallel sequencing technology has allowed the creation of comprehensive catalogs of genetic variation. However, due to the relatively high sequencing error rate for short read sequence data, sophisticated analysis methods are required to obtain high-quality variant calls. Here, we developed a probabilistic multinomial method for the detection of single nucle...
Whole-exome sequencing (WES) arises as a new approach in diagnosing individuals affected by multigenic and complex phenotypes. Herein, we aim to examine whether WES is useful in screening asymptomatic individuals for actionable interventions, which has not yet been established. Twenty-five healthy adults underwent WES, bioinformatics, and manual curation of their exomes. Six participants (24%) ...
Low-level electrical stimulation to the eye has been shown to be neuroprotective against retinal degeneration in both human and animal subjects, using approaches such as subretinal implants and transcorneal electrical stimulation. In this study, we investigated the benefits of whole-eye electrical stimulation (WES) in a rodent model of retinitis pigmentosa. Transgenic rats with a P23H-1 rhodops...
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