Showing 8,721 - 8,740 results of 14,077 for search '"genetics"', query time: 0.13s Refine Results
  1. 8721

    Feigning Acute Intermittent Porphyria by Rania Elkhatib, Modupe Idowu, Gregory S. Brown, Yasmeen M. Jaber, Matthew B. Reid, Cheryl Person

    Published 2014-01-01
    “…Acute intermittent porphyria (AIP) is an autosomal dominant genetic defect in heme synthesis. Patients with this illness can have episodic life-threatening attacks characterized by abdominal pain, neurological deficits, and psychiatric symptoms. …”
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    Article
  2. 8722

    Cardiomyopathy Associated with Celiac Disease in Childhood by Aleksandra Boskovic, Ivana Kitic, Dragan Prokic, Ivica Stankovic

    Published 2012-01-01
    “…Celiac disease is predominantly a disease of the small intestine characterized by chronic malabsorption in genetically susceptible individuals who ingest grains containing gluten, such as wheat, barley, and rye. …”
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  3. 8723

    Application of ecological and mathematical theory to cancer: New challenges by Yangjin Kim, Avner Friedman, Eugene Kashdan, Urszula Ledzewicz, Chae-Ok Yun

    Published 2015-07-01
    “…Cancer is a complex, multi-scale process, in which genetic mutations occurringat a sub-cellular level manifest themselves as functional changes at the cellular and tissue scale.For more information please click the “Full Text” above.…”
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  4. 8724

    Epigenetic and gene regulatory functions of small RNAs by Cecere, Germano

    Published 2023-12-01
    “…I discuss how the discovery of the existence of an RNA intermediate between genetic information and protein translation has changed our perspective on the role of RNA in gene regulation in these past years. …”
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    Article
  5. 8725
  6. 8726

    Neurofibromatosis Type I and Stromal Tumor with a Multiple Digestive Localization by Amina Chaka, Farouk Ennaceur, Mohamed Amine Tormen, Ibtissem Korbi, Faouzi Noomen, Khadija Zouari

    Published 2021-01-01
    “…Neurofibromatosis type I (NF1) is also known as von Recklinghausen disease. It is a genetic disorder that affects the growth and development of nerve cell tissue, which is characterized by a multisystem disorder and an increased risk for cancer. …”
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    Article
  7. 8727

    Tracking des transferts des bactéries porteuses de résistances entre animal, homme et environnement by Meyer, Sylvain, Laval, Lucie, Pimenta, Mélanie, González-Flores, Yolanda, Gaschet, Margaux, Couvé-Deacon, Elodie, Barraud, Olivier, Dagot, Christophe, Ploy, Marie-Cécile

    Published 2023-08-01
    “…Various targeted or pan-genomic molecular biology techniques can be used to better characterise the dissemination of bacterial clones and to identify exchanges of genes and mobile genetic elements between ecosystems.…”
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    Article
  8. 8728

    Familial Kaposi’s Sarcoma: A Report of Five Cases from Greece by Kalliopi Armyra, Anargyros Kouris, Arsinoi Xanthinaki, Alexandros Stratigos, Irene Potouridou

    Published 2014-01-01
    “…The pathogenesis of familial Kaposi’s sarcoma is still far from being completely understood. Genetic, environmental, and infectious factors have been incriminated.…”
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    Article
  9. 8729

    Glossopharyngeal Dystonia Secondary to a Lurasidone-Fluoxetine CYP-3A4 Interaction by Sean Paul, Brian K. Cooke, Mathew Nguyen

    Published 2013-01-01
    “…Drug-drug interactions, patient characteristics, and environmental and genetic factors all contribute to the rate of occurrence of acute dystonia with second generation agents. …”
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    Article
  10. 8730

    Fatal Cholestatic Hepatitis in an Infant: An Unusual Etiology by Mark R Oliver, Alfredo Pinto, R Brent Scott

    Published 1995-01-01
    “…Recognition of the combination of adenoviral infection with underlying primary immunodeficiency is a prerequisite to the provision of genetic counselling.…”
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    Article
  11. 8731
  12. 8732

    Paysages du maïs au Mexique by Hugo Perales

    Published 2021-11-01
    “…In situ conservation of crops, or conservation in farmers’ fields, has been a minor component in the conservation of genetic resources; ex situ methods have been the preferred option. …”
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  13. 8733
  14. 8734
  15. 8735

    Causal relationships between plasma lipidome and diabetic neuropathy: a Mendelian randomization study by Zhaoxiang Wang, Zhong Liu, Qichao Yang, Qichao Yang, Huibo Qiao, Huibo Qiao, Yong Yin, Yong Yin, Zhiyong Zhao, Zhiyong Zhao, Xuejing Shao, Xuejing Shao

    Published 2025-01-01
    “…Further multivariable MR (MVMR) analysis demonstrated the effect of genetically predicted phosphatidylcholine (16:1_18:1) remained after adjusting for body mass index (BMI) and glycated hemoglobin (HbA1c). …”
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  16. 8736

    Young Woman with Unexplained Neutropenia and Neutrophils with Bilobed Nuclei: Marrow Findings by Martin Barnes, Victoria Shklar, Dipen Patel, Harry Staszewski

    Published 2023-01-01
    “…The bone marrow biopsy performed on our patient illustrates that the presence of dysplasia does not rule out hereditary PHA and further genetic testing should be done in the appropriate clinical scenario. …”
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    Article
  17. 8737

    Ipsilateral Vestibular Schwannoma after Cochlear Implantation by S. Tüpker, N. Ay, L. U. Scholtz, H. B. Gehl, V. F. Mautner, P. Goon, H. Sudhoff, I. Todt

    Published 2022-01-01
    “…Based on the clinical findings and after genetic exclusion of NFII, the patient was classified as a NFII mosaic type. …”
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    Article
  18. 8738

    Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report by Yunxi Li, Ruijuan Li, Yanyan Pan, Weiran Zhou, Xingcui Wang, Linlin Dong, Xuemei Liu, Hongxia Zhang

    Published 2025-01-01
    “…BackgroundEnterokinase deficiency (EKD,OMIM #226200) is a rare autosomal recessive genetic disorder caused by mutations in transmembrane protease serine 15 (TMPRSS15). …”
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  19. 8739

    Expression and Function of the Homeostatic Molecule Del-1 in Endothelial Cells and the Periodontal Tissue by Jieun Shin, Kavita B. Hosur, Kalyani Pyaram, Ravi Jotwani, Shuang Liang, Triantafyllos Chavakis, George Hajishengallis

    Published 2013-01-01
    “…Developmental endothelial locus-1 (Del-1) is an endothelial cell-secreted protein that limits the recruitment of neutrophils by antagonizing the interaction between the LFA-1 integrin on neutrophils and the intercellular adhesion molecule (ICAM)-1 on endothelial cells. Mice with genetic or age-associated Del-1 deficiency exhibit increased neutrophil infiltration in the periodontium resulting in inflammatory bone loss. …”
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  20. 8740

    Sex differences in presentation of pheochromocytoma and paraganglioma by Nora Azin Ali, Jan Calissendorff, Jan Calissendorff, Henrik Falhammar, Henrik Falhammar

    Published 2025-01-01
    “…The collected data included the mode of presentation, symptoms, biochemical, genetic and histopathological test results.ResultsThe mean age at surgery/diagnosis was 54.9 ± 17.0 years. …”
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