Showing 121 - 140 results of 180 for search '"Genetic disorder', query time: 0.06s Refine Results
  1. 121

    Canine circovirus: an emerging virus of dogs and wild canids by Farzad Beikpour, Arash Letafati, Zahra Ahmadi Fakhr, Nicoal Decaro, Sayed-Hamidreza Mozhgani

    Published 2025-02-01
    “…Belonging to the Circoviridae family, CanineCV exhibits genetic variability and has been associated with various clinical manifestations, including gastroenteritis, respiratory symptoms, and neurological disorders. …”
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  2. 122
  3. 123

    Advances in the etiopathogenesis of vitiligo by Thomas Mathew, Sachin Vaidya

    Published 2024-12-01
    “…Vitiligo is a disorder that causes depigmentation of the skin and can impact an individual’s quality of life, especially in those with darker skin types due to the contrasting nature. …”
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  4. 124
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  6. 126

    Evaluation of in-vitro and in-silico antidiabetic potential, glucose metabolism, antioxidant, cytotoxicity and phytochemical content of Ipomoea bolusiana Schinz and Ipomoea crassip... by Garland Kgosi More, Nolitha Nkobole, Charmy Twala, Sechaba Machedi, Tebogo Amos Moswetsa, Ramakwala Christinah Chokwe

    Published 2025-02-01
    “…Background: Diabetes Mellitus is a chronic metabolic disorder caused by genetic disorders and other factors such as the use of certain medications, pancreatic injury, and autoimmune diseases such as rheumatoid arthritis and high blood pressure. …”
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  7. 127

    Evaluation of Associated Structural and Chromosomal Abnormalities in Patients with Fetal Cerebral Ventriculomegaly Detected in Ultrasonographic Imaging by Erkan Cagliyan, Samican Ozmen, Sureyya Saridas Demir, Ceren Aydin, Egehan Bilen, Handan Guleryuz, Elif Yasar, Derya Ercal, Elcin Bora, Tufan Cankaya

    Published 2022-12-01
    “…This study aims to evaluate patients with fetal cerebral ventriculomegaly for associated structural and genetic abnormalities and their obstetric and neonatal outcomes. …”
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    Article
  8. 128

    Multi-omic spatial effects on high-resolution AI-derived retinal thickness by V. E. Jackson, Y. Wu, R. Bonelli, J. P. Owen, L. W. Scott, S. Farashi, Y. Kihara, M. L. Gantner, C. Egan, K. M. Williams, B. R. E. Ansell, A. Tufail, A. Y. Lee, M. Bahlo

    Published 2025-02-01
    “…Analysis of common genomic variants, metabolomic, blood and immune biomarkers, disease PheCodes and genetic scores across a fine-scale macular thickness grid, reveals multiple novel genetic loci including four on the X chromosome; retinal thinning associated with many systemic disorders including multiple sclerosis; and multiple associations to correlated metabolites that cluster spatially in the retina. …”
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  9. 129

    CLN6‐related continuum phenotype caused by aberrant splicing by Federica Invernizzi, Barbara Castellotti, Chiara Reale, Celeste Panteghini, Isabel Colangelo, Roberta Solazzi, Francesca Ragona, Lucio Giordano, Jessica Galli, Davide Rossi Sebastiano, Gianluca Marucci, Valeria Cuccarini, Giuseppe Didato, Cinzia Gellera, Barbara Garavaglia, Tiziana Granata, Laura Canafoglia

    Published 2025-02-01
    “…Abstract Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life‐expectancy. …”
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    Article
  10. 130

    Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis by Eleonora Sabetta, Davide Ferrari, Locatelli Massimo, Sulev Kõks, Sulev Kõks

    Published 2025-02-01
    “…Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder leading to upper and lower motoneurons degeneration. …”
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  11. 131

    Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome– paving the path towards precision medicine: a case report by Carolin Seeling, Sonja Dahlum, Ralf Marienfeld, Vera Jan, Brigitte Rack, Uwe Gerstenmaier, Ambros J. Beer, Regine Mayer-Steinacker, Wolfgang Thaiss, Thomas F. E. Barth, Thomas Seufferlein, Nadine T. Gaisa, Stephan Stilgenbauer, Wolfgang Janni, Reiner Siebert, Hartmut Döhner, Verena I. Gaidzik

    Published 2025-01-01
    “…Furthermore, it emphasizes the indispensable role of an interdisciplinary molecular tumor board, enhancing the awareness of molecular profiling and targeted therapies in patients with rare cancer susceptibility disorders.…”
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  12. 132

    A Comprehensive Review of Zavegepant as Abortive Treatment for Migraine by Nazir Noor, Alexis Angelette, Abby Lawson, Anjana Patel, Ivan Urits, Omar Viswanath, Cyrus Yazdi, Alan D. Kaye

    Published 2022-06-01
    “…Migraine headache is a widespread and complex neurobiological disorder that is characterized by unilateral headaches that are often accompanied by photophobia and phonophobia. …”
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  13. 133

    Critical evaluation of pathogenic factors of primary biliary cirrhosis by A. F. Sheptulina, M. V. Mayevskaya, V. T. Ivashkin

    Published 2013-07-01
    “…Etiological factors increasing risk of PBC development include genetic factors, immunologic disorders, and environmental features. …”
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  14. 134

    Clinical presentation, diagnosis and treatment of intrahepatic cholestasis of pregnancy by Yu. B. Uspenskaya, A. A. Sheptulin

    Published 2018-08-01
    “…The etiology and pathogenesis of ICP are related to disorders of bile acid metabolism caused by hormonal factors (elevation of estrogen and progesterone levels) and genetic predisposition. …”
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  15. 135

    Substance Abuse: A Public Health Concern by Ulfat Amin, Adil Mudasir Malla, Ishrat Amin, Roohi Jan

    Published 2023-12-01
    “…It refers to the harmful or hazardous use of psychoactive substances, including drugs and alcohol, that can lead to various health problems, such as addiction, mental health disorders, and physical illness. Alcohol, nicotine, and other illicit drugs are frequently used in excess in substance use disorders, which can impair social, academic, and professional functioning. …”
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  16. 136

    From heparan glycobiology to stem cell therapy: a historical perspective by Victor Nurcombe

    Published 2024-04-01
    “…If the important progress in the past 40 years is any guide, the field of glycobiology is about to enter a golden era, with realistic prospects for glycotherapies that encompass a range of clinical disorders.…”
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  17. 137

    Immunopathogenesis of inflammatory bowel diseases by Ye. A. Konovich, I. L. Khalif, M. V. Shapina

    Published 2013-09-01
    “…To present analysis of data on immunopathogenesis of inflammatory bowel diseases.Key points. At genetically sensitive animals inflammatory bowel diseases (IBD) develop at various effects on innate and adaptive systems of immune defense (knock-out and transgenic mice), causing changes of expression of significant immunologic factors with distortion of pro- and anti-inflammatory cells and molecules ratio at their contact to microbiota structures. …”
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  18. 138
  19. 139

    Modern methods of studying of human gastro-intestinal microflora by Ye. A. Poluektova, O. S. Lyashenko, O. S. Shifrin, A. A. Sheptulin, V. T. Ivashkin

    Published 2014-08-01
    “…New data on relation of disorders of microflora with diseases of cardio-vascular system, disorders of metabolism, autoimmune and allergic diseases have appeared. …”
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