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1281
Assessing Magnetic Susceptibility Profiles of Topsoils under Different Occupations
Published 2018-01-01“…The aims of this study were to investigate the impact of land use or human activity on χlf of soil overlying the same substrate, to discriminate allochthonous material or pollution from autochthonous or inherited ones, and to assess the origin and contribution of superparamagnetic (SP) grains to the global magnetic susceptibility χlf. …”
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1282
Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever
Published 2022-01-01“…FMF is an autoinflammatory disease, usually inherited with an autosomal recessive pattern. The patients typically have biallelic mutations in the MEFV gene, located on chromosome 16. …”
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1283
A narrative review of the literature on the pediatric orthopedic management of fibrous dysplasia
Published 2025-01-01“…Fibrous dysplasia is a congenital, non-inherited, benign intramedullary bone lesion in which the normal bone marrow is replaced by abnormal fibro-osseous tissue. …”
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1284
Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI)
Published 2025-02-01“…GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. Early diagnosis of GSD IV is challenging due to non-specific symptoms, such as liver and spleen enlargement, which can overlap with other hematologic and hepatobiliary disorders. …”
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1285
X-Linked Lymphoproliferative Syndrome and Common Variable Immunodeficiency May Not Be Differentiated by SH2D1A and XIAP/BIRC4 Genes Sequence Analysis
Published 2011-01-01“…The X-linked lymphoproliferative syndrome (XLP) is a rare, inherited immunodeficiency characterized by recurrent episodes of hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, and/or lymphomas. …”
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1286
Dual Functions of the C5a Receptor as a Connector for the K562 Erythroblast-Like Cell-THP-1 Macrophage-Like Cell Island and as a Sensor for the Differentiation of the K562 Erythrob...
Published 2012-01-01“…In contrast to the extraribosomal functions of the RP S19, a proapoptotic signal in pro-EBs, which is caused by mutations in the RP S19 gene, is associated with the inherited erythroblastopenia, Diamond-Blackfan anaemia. …”
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1287
Association of fatty acid desaturase 2 gene polymorphism (rs28456) with susceptibility to bipolar disorder in the Turkish population: A case-control study
Published 2024-01-01“…Future studies are necessary to explore the impact of FADS2 variations on BD risk in larger study groups, considering their potential interaction with non-inherited risk factors.…”
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1288
Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency
Published 2025-01-01“…Abstract Background Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease. …”
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1289
Approximate Solutions of Combinatorial Problems via Quantum Relaxations
Published 2024-01-01“…The proposed quantum relaxations inherit memory compression from quantum random access codes, which allowed us to test the performances of the methods presented for 3-regular random graphs and a design problem motivated by industry for sizes up to 40 nodes, on superconducting quantum processors.…”
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1290
Challenges of Engaging Primary Care Providers in Specialized Telementoring Education About Sickle Cell Disease for Sickle Cell Specialists: Results from the Sickle Cell Disease Tra...
Published 2025-02-01“…Introduction: Sickle cell disease (SCD) is an inherited blood disorder affecting approximately 100,000 individuals in the U.S. …”
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1291
Unlocking the potential of sepiolite: Designing high-performance energy storage materials
Published 2025-06-01“…By utilizing sepiolite's morphological and structural characteristics, the composite materials not only inherit the form of sepiolite but also achieve a significant enhancement in electrochemical performance. …”
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1292
Ayurvedic Management of Huntington’s Chorea (Tandava Roga): A Case of Rare Genetic Condition
Published 2025-01-01“…Huntington’s chorea is a rare genetic neurodegenerative disorder. It is an inherited disease that manifests as motor, cognitive, and psychiatric abnormalities. …”
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1293
Hypertrophic cardiomyopathy: insights into pathophysiology and novel therapeutic strategies from clinical studies
Published 2025-01-01“…Abstract Background Hypertrophic cardiomyopathy (HCM) is a frequently encountered cardiac condition worldwide, often inherited, and characterized by intricate phenotypic and genetic manifestations. …”
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1294
PHENOTYPIC CHARACTERISATION OF F1 HYBRIDS DERIVED FROM CROSS-BREEDING DOUBLE AND SINGLE PETUNIAS (PETUNIA HYBRIDA)
Published 2024-12-01“…Of particular interest is that the double flower inherited the F1 generation and recorded 54.1%, the single flower recorded 45.9%, and a wide range of flower colors were light pink to dark purple. …”
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1295
A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
Published 2025-01-01“…ABSTRACT Background Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a rare, heterogeneous, genetic eye disease associated with severe congenital visual impairment. …”
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1296
Physically engineered extracellular vesicles targeted delivering miR-21-5p to promote renoprotection after renal ischemia-reperfusion injury
Published 2025-04-01“…In this study, we developed neutrophils (NEs) membrane-modified EVs (N-EVs) by exploiting the natural properties of NEs to target damaged endothelium. N-EVs inherited the characteristic membrane proteins of NEs along with the biological functions of EPCs-EVs. …”
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1297
Entropy-extreme concept of data gaps filling in a small-sized collection
Published 2025-03-01“…Thus, the proposed concept inherits the benefits of both parametric estimation and using a trained model of the target process and non-parametric estimation of undefined characteristics that distort data. …”
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1298
RAISE OF HIGH FROST-RESISTANT AGROPYRON–TRITICUM HYBRIDS
Published 2014-12-01“…When ripe, a few frost-resistant lines of winter wheat obtained displayed elevated productivity and altered morphology of ears, which had long awns, inherited in the progeny. This material is now being studied and propagated.…”
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1299
A comparative approach of analyzing data uncertainty in parameter estimation for a Lumpy Skin Disease model
Published 2025-01-01“…Mathematical models of real-life systems inherit loss of information, and consequently, accuracy of their results is often complicated by the presence of uncertainties in data used to estimate parameter values. …”
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1300
The mitochondrial gene order and CYTB gene evolution in insects
Published 2017-05-01“…Mitochondrial DNA genes (mtDNA) are quite often used as markers for phylogenetic research into many organisms including arthropods, because mtDNA is multicopied, is inherited maternally, does not undergo recombination and accumulates mutations quickly enough (relative to the nuclear genome). …”
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