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481
Reappraisal of ANK2 Variants in Cardiovascular Diseases: Uncovering Mechanisms and Future Directions
Published 2025-01-01“…Inherited cardiac arrhythmias, which may lead to sudden cardiac death, represent a significant health risk, with genetic factors playing a key role in their development. …”
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482
MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER
Published 2024-08-01“…This case report underlines the importance of genetic testing in case of patient with documented platelet function disorder, including both mutations associated with inherited platelet disorders and germline mutations more strictly predisposing to Myeloid Neoplasms. …”
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483
Isotopic Age of the Xiong’er Group Volcanic Rocks and Its Geological Significance in Western Henan, China
Published 2022-01-01“…In this study, through the SHRIMP (sensitive high-resolution ion microprobe) zircon uranium-lead (U-Pb) isotope dating of the volcanic rocks of the Xiong’er Group in the Xiong’er Mountain, the research results showed that the age data were separated into two intervals, the magmatic zircon ages from 1836 to 1711 Ma and the inherited zircon ages from 2415±19 to 2193±34 Ma. The isotopic age of magmatic zircon was considered to represent the formation age of the Jidanping Formation in the Xiong’er Mountain, and the isotopic ages of the inherited zircons were consistent with the formation ages of the Taihua Group supracrustal rocks in the lower Xiong’er Group. …”
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484
Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort
Published 2020-01-01“…As ODD can be associated with visual field defects further compromising already degenerating visual function in patients with retinal degenerations, it is important to further our knowledge of ODD in inherited eye disease. The present study aims to evaluate prevalence, demographic features, and optic disc parameters of eyes with superficial ODD in inherited eye conditions. …”
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485
Categorical Abstract Algebraic Logic: Meet-Combination of Logical Systems
Published 2013-01-01“…In fibring the shared connectives of the combined logics inherit properties from both component logical systems, and this leads often to inconsistencies. …”
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486
Complement Diagnostics: Concepts, Indications, and Practical Guidelines
Published 2012-01-01“…The basic indications for serological diagnostic complement analysis today may be divided into three major categories: (a) acquired and inherited complement deficiencies; (b) disorders with complement activation; (c) inherited and acquired C1INH deficiencies. …”
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487
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488
Structural Controls of Uranium Mineralization in the Basement of the Athabasca Basin, Saskatchewan, Canada
Published 2021-01-01“…A number of recent works, including numerical modelling, have improved the understanding of the role of inherited shear zones on fluid flow and the development of uranium deposits at a micro- and regional-scale. …”
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489
Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases
Published 2013-01-01“…The identification of genetic variants that are responsible for human inherited diseases is a fundamental problem in human and medical genetics. …”
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490
IDENTIFICATION OF A (1B)1R SUBSTITUTION AND 1BL.1RS TRANSLOCATION IN WINTER WHEAT INTROGRESSION LINES BY CYTOGENETIC AND MOLECULAR METHODS
Published 2014-12-01“…The Hg1 gene for glume hairiness, inherited from cv. Hostianum 237, has been detected in some introgression stocks. …”
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491
BRCA2 Heterozygosity Delays Cytokinesis in Primary Human Fibroblasts
Published 2009-01-01“…Background: Inherited mutations in the tumour suppressor gene BRCA2 greatly increase the risk of developing breast, ovarian and other types of cancers. …”
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492
Unexpected Abscess Localization of the Anterior Abdominal Wall in an ADPKD Patient Undergoing Hemodialysis
Published 2015-01-01“…Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common monogenic disorders and the leading inheritable cause of end-stage renal disease worldwide. …”
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493
Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia
Published 2015-01-01“…Genetic testing of the parents showed that both APOB variants were inherited from the father while the SPG11 variants were inherited one from each parent. …”
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494
Schemata Isagogica. Osservazioni sui prologhi di alcuni commenti logici del XII secolo a Isagoge e Categorie
Published 2025-02-01“…Twelfth-century commentaries inherited these requirenda, although each master felt free to modify and rearrange traditional elements. …”
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495
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. …”
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496
Certain K0-Monoid Properties Preserved by Tracial Approximation
Published 2011-01-01“…We show that the following K0-monoid properties of C*-algebras in the class Ω are inherited by simple unital C*-algebras in the class TAΩ: (1) pseudocancellation property, (2) weakly divisible, (3) strongly separative, (4) separative, and (5) preminimal.…”
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497
CYTOTYPES OF MUTANT DROSOPHILA MELANOGASTER STOCKS FROM THE COLLECTION OF THE GENETICS OF POPULATION LABORATORY OF THE INSTITUTE OF CYTOLOGY AND GENETICS SB RAS: GENOTYPES OF THE W...
Published 2015-01-01“…Wolbachia is a genus of maternally inherited bacteria that is widespread in field populations of Drosophila melanogaster. …”
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498
ANALYSIS OF POLYMORPHISM OF ORGANELLE DNA TO ELUCIDATE THE PHYLOGEOGRAPHY OF NORWAY SPRUCE IN THE EAST EUROPEAN PLAIN
Published 2015-01-01“…The history of Norway spruce distribution in the East European plain is discussed with regard to the results of allele diversity survey of the mitochondrial Nad1 gene, which is maternally inherited, and the chloroplast trnT-trnF region, which is paternally inherited in spruce. …”
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499
Cognitive Optimization in Assistive Living System Development
Published 2012-01-01“…The aspects of cognition considered are self-organization, communication, and inherited knowledge. A cognitive solution for a related problem, function optimization, is developed because of the complexity and size of the assistive living problem. …”
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500
Low Resolution Limits and Inaccurate Algorithms Decrease Significantly the Value of Late Loss in Current Drug-Eluting Stent Trials
Published 2012-01-01“…Smaller late loss differences are usually not greater than the inherited resolution limits of QCA, which is especially the case in small differences between the various stents in the drug-eluting stent era. …”
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