نتایج جستجو برای: سرریز منحنی پیوند wes
تعداد نتایج: 27344 فیلتر نتایج به سال:
The Iranian Rehabilitation Journal (IRJ) invites research papers on the genetic basis of single gene and complex disorders. This vastly dynamic branch of science will complement the multidisciplinary wealth of expertise in the fields of social welfare and rehabilitation. The past few years have witnessed outstanding research projects on the genetic causes of numerous debilitating disorders, suc...
Abstract Background Whole exome sequencing (WES) is widely adopted in clinical and research settings; however, one of the practical concerns potential false negatives due to incomplete breadth depth coverage for several exons clinically implicated genes. In some cases, a targeted gene panel testing may be dependable option ascertain true genomic variants known disease-associated We developed we...
BACKGROUND Chronic hypertension leads to cardiac hypertrophy, heart failure, and premature death. Little is known about the impact of dietary macronutrient composition on hypertension-induced cardiac hypertrophy and mortality. We investigated the effects of consuming either a high complex carbohydrate diet, a high simple sugar diet, or a high fat diet on cardiac hypertrophy and mortality in hyp...
Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss (ARNSHL) is difficult, since causative mutations in 39 different genes have so far been reported. After excluding mutations in the most common ARNSHL gene, GJB2, via Sanger sequencing, we performed whole-exome sequencing (WES) in 30 individuals from 20 unrelated multiplex consanguineous families ...
Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40% of patients. We hypothesized that unexplained IS cases represent a large collection of rare single-gene disorders. We investigated 44 children with unexplained IS using comparative genomic hybridisation arrays (aCGH) (n = 44) followed by targeted sequencing of 35 known epilepsy genes (n = 8) or whole-ex...
De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes, based on independent de novo loss-of-function (LoF) mutations falling in the same gene, and found that de novo LoF mutations occurred at a twofold ...
PURPOSE To identify the genetic cause of autosomal recessive familial foveal retinoschisis (FFR). METHODS A female sibship with FFR was identified (Family-A; 17 and 16 years, respectively); panel based genetic sequencing (132 genes) and comparative genome hybridization (142 genes) were performed. Whole-exome sequencing (WES) was performed on both siblings using the Illumina-HiSeq-2500 platfor...
Many of the recent advances in autism research that have provided fundamental insight into this condition have come from the application of genetic/genomic approaches; these advances have been fomented by the advent of new technologies to interrogate the en‐ tire genome, such as array comparative genomic hybridization (aCGH), single nucleotide polymorphism (SNP) microarrays, transcriptome seque...
This article reports on the implementation of a formative assessment tool (the Writing Engagement Scale, or WES) in grades 3–5 schools United States. We used confirmatory factor analysis (CFA) to collect validity evidence for WES our population. Results demonstrated acceptable and reliability. In addition, survey results indicated that teachers perceived be useful as writing assessment. make ca...
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