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841
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family
Published 2023-01-01“…EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. …”
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842
Networks of pre-diagnostic circulating RNA in testicular germ cell tumour
Published 2025-01-01“…Abstract Testicular germ cell tumour (TGCT) is a malignancy with known inherited risk factors, affecting young men. We have previously identified several hundred differentially abundant circulating RNAs in pre-diagnostic serum from TGCT cases compared to healthy controls. …”
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843
Hereditary neuropathy with liability to pressure palsies: a case series report
Published 2020-12-01“… Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited peripheral nerve disorder characterized by recurrent, episodic local reversible peripheral nerve compression neuropathy that occurs spontaneously or after minor trauma. …”
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844
Facile Preparation of Phosphotungstic Acid-Impregnated Yeast Hybrid Microspheres and Their Photocatalytic Performance for Decolorization of Azo Dye
Published 2013-01-01“…Fourier transform infrared spectroscopy (FT-IR) elucidates that the functional groups or chemical bonds inherited from the pristine yeast cell were critical to the assembling of the composites. …”
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845
Multiobjective Optimization of Yokeless Axial-Field Flux-Switching Permanent Magnet Motor Using the Hybrid Taguchi Genetic Algorithm for Expanded Speed Range
Published 2024-01-01“…The Taguchi method is employed to generate offspring individuals within GA; it inherits parameter characteristics from stronger offspring, saving considerable computation time. …”
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846
The Role of Architectural Preservation Processes on the Permanence of Heritage Buildings of Value
Published 2022-06-01“…Architectural heritage is all the cultural and civilizational achievements that man inherited from his ancestors, acquiring a qualitative value that has proven its importance and originality in resisting the forces of change, becoming a visual reference. …”
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847
UKRAINIAN PEASANTRY AS AN OBJECT OF AGRARIAN REFORMS
Published 2014-12-01“…The peasants will lose their land forever and become laborers on the land inherited from previous generations. While carrying out a large-scale reform of the agrarian sector, it mustn’t be allowed for oligarchs to take countryside, land and agriculture into their hands. …”
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848
Therapies for Mitochondrial Disorders
Published 2022-12-01“…Mitochondria contain their own genome, mitochondrial DNA (mtDNA), which is maternally inherited from the oocyte. Mitochondrial proteins are encoded by either nuclear DNA (nDNA) or mtDNA, and both code for proteins forming the mitochondrial oxidative phosphorylation (OXPHOS) complexes of the respiratory chain. …”
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849
L’Observatoire photographique national du paysage : transformations d’un modèle et hypothèses renouvelées de paysage
Published 2016-12-01“…In the context of the landscape’s extreme prominence as a discourse, composition, and image, initiatives for the photographic observation of the landscape are developing in France. These approaches inherited from the Observatoire photographique national du paysage (OPNP), take inspiration from a “method” which has been put forward as a “model”. …”
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850
An Unusual Presentation of a Myocardial Crypt in Hypertrophic Cardiomyopathy
Published 2014-01-01“…Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease with prevalence of 0.2% in the population. …”
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851
Finite Element Prediction on Fracture Load of Femur with Osteogenesis Imperfecta under Various Loading Conditions
Published 2022-01-01“…Osteogenesis Imperfecta (OI) is an inherited disorder characterized by extreme bone fragility due to collagen defects. …”
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852
Status of the GERDA Experiment at the Laboratori Nazionali del Gran Sasso
Published 2013-01-01“…In its first phase, high purity germanium diodes inherited from the former Heidelberg-Moscow and Igex experiments are operated “bare” and immersed in liquid argon, with an overall background environment of 10−2 cts/(keV·kg·yr), a factor of ten better than its predecessors. …”
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853
Oriental Studies
Published 2014-10-01“…Moscow Institute for Oriental Studies inherited traditions and rich library from Lazarev Institute. …”
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854
The Tao of Hematopoietic Stem Cells: Toward a Unified Theory of Tissue Regeneration
Published 2002-01-01“…Therefore, HSCs are extremely important targets for gene therapy applications aimed toward the treatment of inherited and acquired blood disorders. However, recent studies have suggested that a subpopulation of HSCs may have the ability to contribute to diverse cell types such as hepatocytes, myocytes, and neuronal cells, especially following induced tissue damage. …”
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855
The historical roots of post-apartheid intra-working-class racism
Published 2021-02-01“…Post-apartheid South Africa has inherited this dual, contradictory, and mutually antagonistic historical consciousness. …”
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856
A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population
Published 2014-09-01“…Bone mineral density (BMD) is one of the quantitative traits that are genetically inherited and affected by various factors. Over the past years, genome-wide association studies (GWASs) have searched for many genetic loci that influence BMD. …”
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857
Generational Expression of Muir-Torre Syndrome in a Canadian Family
Published 2016-01-01“…Muir-Torre syndrome (MTS) is a rare autosomal dominant inherited genodermatosis that is considered to be a phenotypic subtype of hereditary nonpolyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome. …”
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858
Correlation of Oxidative Stress with Serum Trace Element Levels and Antioxidant Enzyme Status in Beta Thalassemia Major Patients: A Review of the Literature
Published 2012-01-01“…Beta thalassemia major is an inherited disease resulting from reduction or total lack of beta globin chains. …”
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859
A HISTORY OF THE AGILA IN ADO LOCAL GOVERNMENT AREA OF BENUE STATE
Published 2022-05-01“…The paper has established that the Wukari and Idah traditions and customs were assimilated (inherited) from the onset. The Jukun and the Igala ‘Model of royalty’ custom is quite a true resemblance of the Agila chieftaincy institution. …”
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860
Reasons and solutions for the disconnect between transfusion medicine theory and clinical practice
Published 2025-01-01“…By integrating modern technologies and research findings, we can refine the invaluable insights and conclusions inherited from our predecessors, thereby approximating closer to the true nature of matters. …”
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