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- Genetic Phenomena 2
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1201
Upper Limb Deep Vein Thrombosis in Patient with Hemophilia A and Heterozygosity for Prothrombin G20210A: A Case Report and Review of the Literature
Published 2017-01-01“…The d-dimer level was normal and investigations for prothrombotic state revealed heterozygosity for prothrombin G20210A mutation. Treatment with factor VIII and low molecular weight heparin led to successful resolution and marked improvement of his clinical condition.…”
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1202
Aging in Persons with Rett Syndrome: An Updated Review
Published 2010-01-01“…Rett syndrome (RS) is a neurological disease affecting mainly females, characterized by an arrest of brain development caused by an X-linked mutation. Rett syndrome is the first human disease found to be caused by defects in a protein involved in regulating gene expression through its interaction with methylated DNA. …”
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1203
First Case Report of Arrhythmogenic Right Ventricular Cardiomyopathy Showing Refractory Ventricular Tachycardia Induced by Thyroid Storm due to Graves’ Disease
Published 2022-01-01“…A 48-year-old man who was diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC) due to a plakophilin 2 gene mutation developed acute both-sided heart failure with rapid atrial fibrillation and was hospitalized. …”
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1204
An Improved Differential Evolution Solution for Software Project Scheduling Problem
Published 2015-01-01“…This paper proposes a refined DE where a new mutation mechanism is introduced. The superiority of the proposed method is experimented and demonstrated by solving the SPSP on 50 random instances and the results are compared with some of the techniques in the literature.…”
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1205
HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell
Published 2017-01-01“…Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). …”
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1206
Sufficient Conditions for Global Convergence of Differential Evolution Algorithm
Published 2013-01-01“…It is also proved that the two common mutation operators satisfy the algorithm framework. …”
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1207
Coats’ Disease-Related Macular Edema Treated with Combined Aflibercept and Laser Photocoagulation
Published 2017-01-01“…These findings and a systemic work-up that yielded an incidental Factor V Leiden mutation lead to a diagnosis of Coats’ disease. Initial treatment consisted of laser photocoagulation and intravitreal bevacizumab but with poor response. …”
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1208
Challenges of Analysing Gene-Environment Interactions in Mouse Models of Schizophrenia
Published 2011-01-01“…Far fewer studies, however, have attempted to generate a “two-hit” model, whereby the consequences of a pathogenic mutation are analysed in combination with environmental manipulation such as prenatal stress. …”
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1209
Color UAV Image Edge Detection Based on Improved Fireworks Algorithm
Published 2023-01-01“…For each category, an explosion formula is proposed, and the explosion mutation operator of the fireworks algorithm is improved accordingly. …”
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1210
Role of Epstein-Barr Virus and Human Papilloma Virus in the Development of Oropharyngeal Cancer: A Literature Review
Published 2022-01-01“…As to EBV, it was noted that its “hit and run” phenomenon manipulates the host epigenetic mechanism, triggering the tumor process without the virus being currently present; a “cellular reprogramming” is essentially generated, causing heritable changes in gene expression without DNA mutation. In conclusion, there is an association between oropharyngeal carcinogenesis and HPV and also between the former and EBV. …”
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1211
Diversité linguistique et enrichissement lexical en koulango
Published 2025-01-01“…Résumé : Les mutations linguistiques sont fonction de la nature évolutive de la société et de la communauté. …”
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1212
Genotoxicity Studies of Titanium Dioxide Nanoparticles (TiO2NPs) in the Brain of Mice
Published 2016-01-01“…Moreover, Comet assay revealed the apoptotic DNA fragmentation, while PCR-SSCP pattern and direct sequencing showed point mutation of Presenilin 1 gene at exon 5, gene linked to inherited forms of the Alzheimer’s disease. …”
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1213
Engineering a bacterial toxin deaminase from the DYW-family into a novel cytosine base editor for plants and mammalian cells
Published 2025-02-01“…We report a novel CRISPR/Cas9-cytosine base editor using SsdA, a DYW-like deaminase and bacterial toxin. A G103S mutation in SsdA enhances C-to-T editing efficiency while reducing its toxicity. …”
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1214
Computing Resource Allocation Strategy Using Biological Evolutionary Algorithm in UAV-Assisted Mobile Edge Computing
Published 2022-01-01“…On the basis of data encoding, crossover, mutation, and termination operations, the optimization performance of algorithm is greatly improved by multiple iterations of fitness function. …”
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1215
Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder
Published 2024-01-01“…The genetic study found a steroidogenic acute regulatory protein (StAR) mutation. Conclusion. Mutations in StAR result in a nonfunctional protein, which clinically translates into congenital adrenal hyperplasia and, in the case of patients with 46 XY karyotype, is accompanied by gonadal dysgenesis characterized by androgen deficiency, without alterations in anti-Müllerian hormone.…”
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1216
Leber hereditary optic neuropathy
Published 2018-12-01“… Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA mutations. Three most common mutations, namely m.11778G>A, m.14484T>G, and m.3460G>A, account for the majority of LHON cases. …”
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1217
Long-Term Use of Ruxolitinib in an AML Patient with Posttransplant Steroid Refractory GVHD
Published 2020-01-01“…We present a case of a 32-year-old male on ruxolitinib with GVHD status postmatched unrelated donor stem cell transplant (MUD SCT) for acute myeloid leukemia (AML) with FLT3 mutation currently on ruxolitinib for 5 years who is not able to tolerate reduction in dosage due to flare-ups. …”
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1218
Dynamiques de création et trajectoires d’Ateliers de transformation collectifs (ATC) dans la région Occitanie
Published 2021-05-01“…However, several trajectories have been observed, among which those of decline (disappearance) or its mutation into a individual structure. Several factors of perenniality were highlighted, such as the membership renewal, ability to anticipate, the role of the ATC role in territorial development. …”
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1219
Rues en parallèle, une étude comparative entre Shanghai et Paris
Published 2010-05-01“…Alors que les métropoles chinoises connaissent une globalisation accélérée, l’observation de deux rues, l’une chinoise, l’autre parisienne, aide à comprendre ce qui fait leur permanence et leur singularité, notamment les différences et les similitudes qui concernent les différents aspects de leur mutation. Ce sont en particulier les caractéristiques du processus de gentrification que ces deux rues connaissent qui les différencient: pour la rue du faubourg Saint Antoine domine une gentrification résidentielle, de type socio-culturelle, qui s’affirme depuis une trentaine d’année ; tandis que pour la rue Sichuan (Nord), on observe une gentrification de fréquentation, encouragée par une politique très volontaire de renforcement rapide de sa vocation commerciale à l’échelle métropolitaine au détriment des espaces et des populations riveraines.…”
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1220
Advanced Computing Approach for Modeling and Prediction COVID-19 Pandemic
Published 2022-01-01“…The emergence of many strains of the coronavirus, including the latest omicron strain, which is spreading at a very high speed, is leading to the World Health Organization’s (WHO) concern about the creation of this new mutation. Therefore, there is a strong motivation for modeling and predicting COVID-19 to control the number of cases of the disease. …”
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