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Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
An abbreviated tract of five thymidines (5T) in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is found in approximately 10% of individuals in the general population.Expand
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Rescue of synaptic plasticity and spatial learning deficits in the hippocampus of Homer1 knockout mice by recombinant Adeno-associated viral gene delivery of Homer1c
Homer1 belongs to a family of scaffolding proteins that interact with various post-synaptic density proteins including group I metabotropic glutamate receptors (mGluR1/5). Previous research in ourExpand
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64-Slice CT angiography of the abdominal aorta and abdominal arteries: comparison of the diagnostic efficacy of iobitridol 350 mgI/ml versus iomeprol 400 mgI/ml in a prospective, randomised,
PurposeThe purpose of this study was to assess the influence of iodine concentration on diagnostic efficacy in multi-detector-row computed tomography (MDCT) angiography of the abdominal aorta andExpand
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Visual pathway tumor: a heterogeneous tumor with a variable clinical course.
The aim of the study was to delineate the clinical characteristics of visual pathway tumor in children without neurofibromatosis-I. The authors reviewed the charts of all patients meeting theseExpand
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A Systematic Approach for the Selection of Optimization Algorithms including End-User Requirements Applied to Box-Type Boom Crane Design
In engineering design, optimization methods are frequently used to improve the initial design of a product. Expand