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9201
Clinical Insight into Congenital Hypothyroidism Among Children
Published 2025-01-01“…Molecular, genetic, and technological advances have led to increased knowledge regarding neonatal thyroid hormone metabolism disorders. …”
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9202
Incorporating Growth Performance with Youth Market Hog Shows
Published 2011-01-01“…By incorporating growth performance, youth swine shows can provide opportunities for education about growth performance and lean gain per day on test, and reward genetically superior animals. This 6-page fact sheet explains how such an exhibition program would work. …”
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9203
Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child
Published 2012-01-01“…Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis.…”
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9204
Rare Case of Congenital Thrombotic Thrombocytopenic Purpura Presenting as Posttransplant Thrombotic Microangiopathy
Published 2024-12-01“…Currently, the patient is back on maintenance hemodialysis and is doing well and planned for a genetic study.…”
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9205
Multicast routing with delay constrain based on improved CSA
Published 2009-01-01“…With the application of the good gene information in the immaturity subpopulation,the improved clonal selection algorithm which was proposed,combined the principle of minimum cost and delay constrains to modify each individual gene so as to improve population.Meanwhile,an additional memory cell of the best individual accumulated in the process was set up to avoid population devolution.The optimized solution could be promptly searched and reached without prepared routing set.Simulation tests of multicast routing with delay constrain demonstrate that the improved clonal selection algorithm has better search efficiency,higher convergence speed,lower complexity of calculation,and better robust performance than the usual clonal selection algorithm and the genetic algorithm.…”
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9206
Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene
Published 2025-02-01“…Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. …”
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9207
FAULT DIAGNOSIS OF RECIPROCATING COMPRESSOR ON THE RESONANCE-BASED SPARSE SIGNAL DECOMPOSITION WITH OPTIMAL Q-FACTOR
Published 2019-01-01“…Reciprocating compressor vibration signal is typical nonlinear and non-stationary,and the vibration information interference coupling, owing to this problem,a fault diagnosis method of reciprocating compressor on the resonance-based sparse signal decomposition with optimal Q-factor was proposed.The method use resonance sparse decomposition to find the low resonance component which its kurtosis is maximum, optimize Q-factor with genetic algorithm and particle swarm optimization to get the optimal Q-factor;then use resonance sparse decomposition to decompose reciprocating compressor vibration signal by the optimal Q-factor;the result shows that this method can diagnose the oversized bearing clearance fault effectively.…”
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9208
Spectrum allocation of cognitive wireless network based on immune clone selection optimization
Published 2010-01-01“…The spectrum sensing process was described based on WRAN.By analyzing physical connection of cognitive wireless network,the mathematical model of spectrum allocation was given,and then it was converted into a constrained optimization problem,whose goal was to maximum the profit of network.An immune clone selection algorithm was proposed to solve the problem,and the algorithm convergent with probability 1 was proved.Finally,the simulation experiments were done to test the algorithm.The results showed that compared with CSGC algorithm(color-sensitive graph coloring) and GA-SA(spectrum allocation based on genetic algorithm),this algorithm could achieve maximization of network profits.Meanwhile,the system simulation results based on WRAN confirmed its effectiveness.…”
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9209
A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract Syndrome
Published 2005-01-01“…BACKGROUND: Hereditary hyperferritinemia cataract syndrome is an autosomal dominant condition that is characterized by a high serum ferritin level and bilateral early-onset cataracts in the absence of iron overload. The genetic abnormality is identified as a mutation in the 5' regulatory region of the L-ferritin messenger RNA known as the iron-responsive element (IRE). …”
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9210
Harnessing 3D models to uncover the mechanisms driving infectious and inflammatory disease in the intestine
Published 2024-12-01“…Despite the emergence of 3D in vitro intestinal organoid culture systems that replicate the genetic and functional characteristics of the epithelial tissue of origin, there are still challenges in reproducing the human physiological tissue environment in a format that enables functional readouts. …”
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9211
Peanut Allergy, Allergen Composition, and Methods of Reducing Allergenicity: A Review
Published 2013-01-01“…This paper reviews methods of reducing peanut allergenicity, including physical methods (heat and pressure, PUV), chemical methods (tannic acid and magnetic beads), and biological methods (conventional breeding, irradiation breeding, genetic engineering, enzymatic treatment, and fermentation).…”
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9212
Hereditary Angioneurotic Edema and Familial Crohn’s Disease
Published 2000-01-01“…The clinical observations in this family suggest that angioneurotic edema associated with C-1’ esterase inhibitor deficiency may be closely linked genetically with a familial form of Crohn’s disease.…”
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9213
A rare case of congenital vitiligo in a neonate with a review of literature
Published 2024-12-01“…Our case in point contributes to the limited pool of studies on congenital vitiligo (nine cases reported till date) and lends credibility to the theory that, in genetically vulnerable individuals, the autoimmune process may begin in utero.…”
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9214
Analysis and Optimization on Workspace of 2-PrRS-PR(P)S Parallel Metamorphic Mechanism
Published 2020-03-01“…Aiming at the maximized workspace volume,the optimized structural parameters is obtained by Genetic Algorithm and single variable analysis.…”
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9215
Severe Rhabdomyolysis Associated with Simvastatin and Role of Ciprofloxacin and Amlodipine Coadministration
Published 2015-01-01“…In addition to age, gender, ethnicity, genetic predisposition, and dose, drug-drug interactions play a major role. …”
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9216
Management of Primary Sclerosing Cholangitis: Conventions and Controversies
Published 2012-01-01“…While the pathogenesis of PSC has not been fully elucidated, emerging evidence supports roles for the innate and adaptive immune systems, and genome-wide analyses have identified several genetic associations. Using the best available evidence, the present review summarizes the current understanding of the diagnosis, pathogenesis and management of PSC. …”
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9217
Tailored Therapy in Lung Cancer
Published 2013-01-01“…However, it is now recognized that non-small cell lung cancer actually comprises a genetically diverse group of tumours. This, in turn, affords a new opportunity for the development of effective treatments tailored to individual tumours and patients. …”
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9218
Characterization and phylogenetic analysis of the complete chloroplast genome of Carpesium longifolium F. H. Chen & C. M. Hu (Asteraceae, Inuleae)
Published 2025-01-01“…For the identification and phylogenetics study of the genus, the chloroplast genome sequence of C. longifolium provides a useful genetic resource.…”
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9219
Pour une approche génétique de l'ébauche
Published 2021-05-01“…How and under what conditions can the “ébauche” become an object of study for art history ? Only a genetic approach, centred on the creative processes, allows a precise comprehension of the phenomenon of the “ébauche”.…”
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9220
Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria
Published 2018-01-01“…Acute intermittent porphyria (AIP) is a rare genetic disease characterized by alterations in heme biosynthesis that result in accumulation of precursors in tissues. …”
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