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901
Central Retinal Vein Occlusion with Therapeutic Level of Anticoagulation
Published 2009-01-01“…To describe a patient with two episodes of deep venous thrombosis and factor V Leiden mutation who presented with central retinal vein occlusion (CRVO) despite prophylactic use of warfarin sodium (Coumadin). …”
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902
Creation of body color mutants by CRISPR/Cas9 gene editing in largemouth bass, Micropterus salmoides
Published 2025-03-01“…Enzyme-digestion and sanger-sequencing demonstrated that the CRISPR/Cas9 system is available for the gene editing of LMB. The tyrb mutation resulted in reduced melanin and even albinism in eye and body of larvae, while the csf1ra mutation led to reddish body color, reduced xanthophores and melanophores in juvenile and adult fish with high mutation rate. …”
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903
Genetic characteristics of influenza A and B viruses circulating in Russia in 2019–2023
Published 2024-12-01“…No oseltamivir and zanamivir resistance mutations in NA were detected in all tested influenza A(H3N2) and B viruses. …”
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904
Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum
Published 2012-01-01“…Further hepatic investigations and genetic mutation analysis were performed, ultimately leading to a diagnosis of Alagille syndrome. …”
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905
Treatment of Homozygous Type II Antithrombin Heparin-Binding Site Deficiency in Pregnancy
Published 2021-01-01“…Characterization of the AT mutation may aid in the decision-making process and optimize pregnancy outcomes.…”
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906
Comparison of the Effect of Various Types of Genetic Algorithm Operators on the Total Amount of Tardiness in Flow Shop Problem
Published 2022-09-01“…The purpose of this paper is to investigate the effect of crossover and mutation operators of the genetic algorithm on the objective of minimizing total amount of tardiness in permutation FSSP in order to determine more suitable ones to be applied in the problem. …”
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907
Multiple Myeloma in a Patient with ANKRD26-Related Thrombocytopenia Successfully Treated with Combination Therapy and Autologous Stem Cell Transplant
Published 2019-01-01“…ANKRD26 mutation has been previously associated with myeloid malignancies, including acute myeloid leukemia, myelodysplastic syndrome, and chronic myeloid leukemia. …”
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908
Solmisationssysteme in El cantor instruido von Manuel Cavaza. Ein Fallbeispiel zur Methodenvielfalt im 18. Jahrhundert
Published 2021-06-01“…In addition to Guidonian solmization with hexachords and mutations, he presents two methods without mutation as well as a kind of “moveable do” system using key simulation. …”
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909
Atypical Myocardial Infarction with Apical Thrombus and Systemic Embolism: A Rare Presentation of Likely JAK2 V617F-Positive Myeloproliferative Neoplasm
Published 2020-01-01“…The prevalence of JAK2 mutation is low in the general population but higher in patients with myeloproliferative neoplasms. …”
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910
The Precompression Processing of LMS Algorithm in Noise Elimination
Published 2019-01-01“…The improved algorithm can eliminate the influence of input signal mutation on the filter performance. In the numerical simulations, we compare the improved LMS algorithm and NLMS algorithm in the cases of normal input signal and input signal with mutation and the influence of different regulator factors on the noise elimination. …”
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911
Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review
Published 2025-01-01“…WES revealed a filamin C mutation (p.Glu309Valfs × 11). The mutation status of the patient and her father was heterozygous, whereas the mutation was not detected in the mother. …”
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912
Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors
Published 2020-01-01“…Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation. However, different phenotypes can be observed depending on such germline mutations. …”
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913
Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis
Published 2022-01-01“…The family members of the respective patients presented mutations in major genes causing HS. The Leu2032Pro mutation identified in patient III-1 is a new missense mutation of the SPTB gene in the Chinese population that has never been reported in literature previously. …”
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914
An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation
Published 2018-01-01“…A previously described hemizygous c.31C>T(p.Arg11Ter) mutation was found in CD40LG gene. The mother was heterozygous carrier for this mutation and his sister did not have any mutation. …”
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915
Faking the News: Intentional Guided Variation Reflects Cognitive Biases in Transmission Chains Without Recall
Published 2018-07-01“…Two potential forms of mutation in cultural evolution have been identified: ‘copying error’, where learners make random modifications to a behaviour and ‘guided variation’ where learners makes non-random modifications. …”
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916
Paroxysmal Nonkinesigenic Dyskinesia with Tremor
Published 2013-01-01“…Genetic diagnosis was confirmed via A7V mutation of the myofibrillogenesis regulator (MR-1) gene. …”
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917
The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness
Published 2011-01-01“…The first model is the autosomal recessive, slowly progressive, late-onset, rod-cone degenerative disease caused by a mutation in the CEP290 gene. The second model addressed in this paper is the autosomal dominant early onset rod cone dysplasia, putatively caused by the mutation found in the CRX gene. …”
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918
Q-Learning-Driven Butterfly Optimization Algorithm for Green Vehicle Routing Problem Considering Customer Preference
Published 2025-01-01“…In order to improve the overall optimization ability of the algorithm, enhance the optimization accuracy, and prevent the algorithm from falling into a local optimum, the Gaussian mutation mechanism with dynamic variance was introduced, and the migration mutation mechanism was also used to enhance the population diversity of the algorithm. …”
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919
A Very Rare Cause of Pleuritic Chest Pain: Bilateral Pleuritis as a First Sign of Familial Mediterranean Fever
Published 2013-01-01“…The pleuritic chest pain was associated with abdominal pain in the last attack. The gene mutation analysis revealed the homozygosity of FMF (F479L) gene mutation in both our patient and his grandchild. …”
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920
Rapid Evaluation of Mutant Exon-11 in c-kit in a Recurrent MCT Case Using CD117 Immunocytofluorescence, FACS-Cell Sorting, and PCR
Published 2013-01-01“…Therefore, fine-needle aspiration (FNA) was performed to collect the MCT cells and these cells were submitted to our laboratory for the detection of internal-tandem-duplicated (ITD) mutation of exon-11 in c-kit, prior to the treatment. …”
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