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921
Characterization and Etiopathogenic Approach of Pediatric Renal Biopsy Patients in a Colombian Medical Center from 2007-2017
Published 2018-01-01“…For isolated hematuria, the predominant biopsy diagnosis was inherited diseases of the glomerular basement membrane (70%) and for nephrotic syndrome, podocytopathy (82%). …”
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922
Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review
Published 2024-05-01“…Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, hypokalemia, hypochloremia, metabolic alkalosis, and low-to-normal blood pressure. …”
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923
Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination
Published 2025-01-01“…We report the first Korean familial case involving twin boy and girl carrying a novel pathogenic BCAP31 variant which was inherited from their mother. The male proband, born prematurely with very low birth weight (VLBW), exhibited severe global developmental delay, microcephaly, failure to thrive, dystonia, seizures, sensorineural hearing loss (SNHL) requiring cochlear implantation, and mild facial dysmorphism. …”
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924
A Hybrid Renewable Sources Implementation for a DC Microgrid with Flatness-Nonlinear Control to Achieve Efficient Energy Management Strategy
Published 2023-12-01“…Because of the nonlinear system's behavior, differential flatness-based control has been applied mainly in nonlinear systems where the number of variables to the outputs is reduced with a robust control system established through inherited parameter reductions and equality constraints due to the system trajectories (x, u) is straightforwardly estimated from flat output trajectories y and their derivatives without any differential equation integration. …”
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925
Effect of γ-ethyl-γ-phenyl-butyrolactone (EFBL), anticonvulsant and hypnotic drug, on mouse brain catecholamine levels
Published 2017-06-01“…γ-Ethyl-γ-phenyl-butyrolactone (EFBL) is a structural combination of the anticonvulsant γ-hydroxy-γ-ethyl-γ-phenylbutyramide (HEPB) and the hypnotic γ-butyrolactone (GBL), which inherits both properties. To clarify its mechanism of action, the effects of EFBL, GBL and HEPB on dopamine (DA) and noradrenaline (NA) brain levels were investigated. …”
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926
Deep Vein Thrombosis and Pulmonary Embolism Secondary to Thrombophilic Disorder: A Case Report
Published 2025-02-01“…Although iron deficiency is a rare risk factor, recognising it as a significant risk factor can help prevent pulmonary thromboembolism if detected early and treated. The most common inherited thrombophilias—such as Factor V Leiden mutation, prothrombin G20210A mutation and deficiencies in protein C, protein S and antithrombin III—are a group of genetic conditions that predispose individuals to thrombotic events by influencing various factors involved in the coagulation cascade. …”
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927
Fluid dynamics of planetary differentiation
Published 2025-01-01“…We then discuss how additional factors—immiscibility and fragmentation, inertia inherited from the impact, Coriolis force, sedimentation—affect the predictions of this model, and discuss the extent of chemical equilibration. …”
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928
Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights
Published 2025-01-01“…Genetic testing identified a novel SPTB gene splicing mutation (NM_001355436.2: c.1645-1G>A), inherited maternally, which is predicted to disrupt normal RNA splicing and protein synthesis.DiscussionThe identified SPTB mutation expands the known mutation spectrum of the SPTB gene and highlights its role in the pathogenesis of HS. …”
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929
Hemophagocytic Lymphohistiocytosis in a Patient with Classical Hodgkin Lymphoma
Published 2016-01-01“…Hemophagocytic lymphohistiocytosis (HLH) is a rare hyperinflammatory syndrome that can be associated with inherited genetic mutations, malignancy, autoimmune disorders, and viral infections. …”
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930
A Smart Chatbot for Interactive Management in Beta Thalassemia Patients
Published 2022-01-01“…Background. β-thalassemia is an inherited blood disorder that affects the production of hemoglobin molecules owing to the reduction or absence of beta chains. …”
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931
Lithuanian bibliophiles in the XVIII century
Published 2024-08-01“…Some of them, like Uršulė Višnioveckaitė-Radvilienė, Elena Radvilienė, Žozefina Radvilienė-Masalskienė, Konstancija Radvilaitė-Sapiegienė, Ona Sapiegaitė-Jablonovskienė, Teofilė Jablonovskytė-Sapiegienė, Aleksandra Czartoryska-Ogińska, Ona Platerytė, and Judita Jelenskytė-Raes, built valuable collections according to their interests or maintained and developed inherited collections. It is evident that during the 18th century, book collection and maintaining libraries was a matter of fashion among the noble families in Lithuania. …”
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932
Transcription factor TCF4: structure, function, and associated diseases
Published 2024-11-01“…This further emphasizes the importance of investigating gene functions and molecular pathogenetic pathways associated with single-gene inherited diseases. This review focuses on the TCF4 gene that encodes a transcription factor crucial for nervous system development and functioning. …”
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933
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934
Distribution and Characteristics of Bacteria Isolated from Cystic Fibrosis Patients with Pulmonary Exacerbation
Published 2022-01-01“…Cystic fibrosis (CF) is an inherited recessive disorder characterized by recurrent and persistent pulmonary infections, resulting in lung function deterioration and early mortality. …”
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935
Characterization of Patients with Cystic Fibrosis in Multidisciplinary Consultation
Published 2020-02-01“…<strong>Foundation:</strong> cystic fibrosis is a multisystemic inherited disorder in children and adults, characterized by obstruction and infection in the respiratory tract and by symptoms and signs of the digestive system with its consequences. …”
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936
THE SOCIAL PROTEST «WITH CHINESE PARTICULARITY»: THE SHIFTING VECTOR
Published 2015-08-01“…Contemporary partocracy regime of PRC inherited all the negative characteristics of soviet «nomenclature» such as hierarchy career based on loyalty, bureaucracy privileges, special rations and advantages, nepotism, corruption and so on, but has created specific Chinese system of «soft» succession of power from generation to generation. …”
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937
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938
USE OF INTERSPECIFIC HYBRIDIZATION IN THE BREEDING OF ADAPTIVE HYBRIDS AND SORTS OF GARDEN CHRYSANTHEMUM (Chrysanthemum morifolium Ramat.)
Published 2018-07-01“…., which have formed and fixed during evolution, were inherited and manifested in offspring of the multicomponent hybrids and the closely related crosses. …”
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939
The Importance of Natural Indigo Dye and Its Revitalization and Ethiopian Potential for Indigo Growing
Published 2023-01-01“…In this regard, natural indigo dye from the indigo plant is getting attention, and thus, it is preferred as good as synthetic indigo dye, owing to its inherited dyeing property. With natural indigo dye, it can be achieved eco-friendly dyeing without the application of mordant attaining commercially acceptable fastness properties. …”
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940
Organoleptic Quality Attributes and Their Association with Morphological Traits in Arabica Coffee (Coffea arabica L.) Genotypes
Published 2022-01-01“…Therefore, an experiment was conducted to determine the quality attributes of the genotypes and correlate their inherited quality with morphological traits. The experiment was superimposed on five-year-old plants of 17 coffee genotypes during the 2018 cropping season at Teppi and Gemadro sites. …”
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