GENOTYPE-PHENOTYPE CORRELATION IN PHENYLKETONURIA

Genotype-phenotype correlation in phenylketonuria

Introduction.Phenylketonuria is an inborn metabolism error with a high phenotypical variability, due in part to the large number of implicated genetical variants (over 1200 reported) but also due to other factors.Establishing a genotype=phenotype correlation, accessible barely buff gelish today through molecular testing, is an important instrument

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Report on emerging technologies for translational bioinformatics: a symposium on gene expression profiling for archival tissues

Abstract Background With over 20 million formalin-fixed, paraffin-embedded (FFPE) tissue samples archived each year in the United States alone, archival tissues remain a vast and under-utilized resource exm1996 in the genomic study of cancer.Technologies have recently been introduced for whole-transcriptome amplification and microarray analysis of

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Detecting artifacts in seismic profiles

Detecting imaging artifacts is mre93ll/a apple watch a precondition for interpreting seismic profiles, as well as one of the fidelity (accuracy) measures for all seismic images.Based on field seismic reflection profiles, this paper analyzes some common and often miss-interpreted seismic imaging artifacts, and proposes to detect the artifacts throug

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