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8541
Pulmonary artery aneurysm as a rare manifestation of Alpha-1 antitrypsin deficiency
Published 2025-01-01“…Alpha-1 antitrypsin is a relatively well-known genetic disease known to primarily affect the lungs and liver. …”
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8542
Activity of the Tyumen Commodity Exchange (1910–1917)
Published 2024-09-01“…Based on the study of press materials and unpublished sources from the funds of the State Archive of the Tyumen region and the application of historical methods such as historical-comparative, historical-genetic, statistical, the aim of the study is achieved — the mechanism of the exchange is analyzed, the main directions of its activities are identified, its efficiency is assessed.…”
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8547
Antropología simétrica y procesos de curación con ayahuasca
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Morphological characterization and yield of pepper (Piper nigrum L.) types grown in Morogoro District, Tanzania
Published 2021-02-01“…This may limit information on germplasm collection or genetic resource for plant improvement and trade in markets with variety specifications. …”
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8551
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays
Published 2025-01-01Get full text
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8552
Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality
Published 2025-12-01“…Our findings not only broaden the current understanding of CDC20 gene mutations but also profoundly illuminate how these mutations serve as potential genetic mechanisms underlying the arrest of oocyte maturation.…”
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8553
A Case Report of Clinical Features Analysis of a Novel IKBKG Variant Leading to Anhidrotic Ectodermal Dysplasia and Immunodeficiency
Published 2024-10-01“…These symptoms were consistent with the phenotype of EDA-ID. Genetic analysis revealed a hemizygous mutation c.1249T > G (p.Cys417Gly) in exon 10 of the IKBKG gene in the patient. …”
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8554
Hereditary neuropathy with liability to pressure palsies: a case series report
Published 2020-12-01“…All patients had a genetically proven diagnosis of a deletion at 17p12 locus, which contains PMP22 gene. …”
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8555
A Comprehensive Review of the Diversity of Fungal Secondary Metabolites and Their Emerging Applications in Healthcare and Environment
Published 2024-11-01“…Here, the authors have reviewed the recent advancements in genetic engineering, metabolic pathway manipulation, and synthetic biology to improve the production and yield of these SMs. …”
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8556
Multivariable Discriminant Analysis for the Differential Diagnosis of Microcytic Anemia
Published 2013-01-01“…Linear discriminant functions based on hemogram data can aid in differentiating between IDA and thalassemia, so samples can be efficiently selected for further analysis to confirm the presence of genetic anemia.…”
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8557
Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review
Published 2024-09-01“…This case report not only enhances our understanding of CID but also provides a new addition to the genetic landscape of CID both domestically and internationally, aiding in earlier diagnosis and treatment of such diseases in clinical practice. …”
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8558
Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice
Published 2025-02-01“…Comprehensive neurological assessments, including neuroimaging and genetic testing, ultimately diagnosed him with CTX. …”
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8559
Functional Properties of Human Stem Cell-Derived Neurons in Health and Disease
Published 2016-01-01“…These include new technologies such as direct conversion of somatic cell types into neurons and glia which may accelerate maturation and retain genetic hallmarks of aging. In addition, novel forms of genetic manipulations have brought human stem cells nearly on par with those of rodent with respect to gene targeting. …”
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8560
A Real-Time Train Timetable Rescheduling Method Based on Deep Learning for Metro Systems Energy Optimization under Random Disturbances
Published 2020-01-01“…This paper proposes a Modified Genetic Algorithm-Gate Recurrent Unit (MGA-GRU) method, which is a real-time TTR method based on deep learning. …”
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