Showing 641 - 660 results of 1,178 for search '"Genetic disorder', query time: 0.09s Refine Results
  1. 641

    Folie à Deux in the Setting of COVID-19 Quarantine by Maxsaya Baez Nuñez, Ezequiel Rodriguez, Matthew DeLuca, Krishan Chirimunj, Monica Dhingra

    Published 2022-01-01
    “…The preconditions that must exist for folie à deux to develop are an intimate emotional association between the inducer and the induced and a genetic predisposition to psychosis, such as blood relations with primary relatives. …”
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  2. 642

    Characterization of Zebrafish von Willebrand Factor Reveals Conservation of Domain Structure, Multimerization, and Intracellular Storage by Arunima Ghosh, Andy Vo, Beverly K. Twiss, Colin A. Kretz, Mary A. Jozwiak, Robert R. Montgomery, Jordan A. Shavit

    Published 2012-01-01
    “…von Willebrand disease (VWD) is the most common inherited human bleeding disorder and is caused by quantitative or qualitative defects in von Willebrand factor (VWF). …”
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  3. 643

    Harlequin Ichthyosis: Case Series by Huriye Ezveci, Sukran Dogru, Fatih Akkus, Kazim Gezginc

    Published 2024-04-01
    “… Objective: Harlequin ichthyosis (HI) is an autosomal-recessive inherited disorder. The incidence is extremely rare and is reported to range from 1/300 000 to 1/1 000 000. …”
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  4. 644

    BMP-9 mediates fibroproliferation in fibrodysplasia ossificans progressiva through TGF-β signaling by Chengzhu Zhao, Yoshiko Inada, Souta Motoike, Daisuke Kamiya, Kyosuke Hino, Makoto Ikeya

    Published 2024-12-01
    “…Abstract Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder presenting with progressive heterotopic ossification (HO) in soft tissues. …”
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  5. 645

    Predicting Disease Onset from Mutation Status Using Proband and Relative Data with Applications to Huntington's Disease by Tianle Chen, Yuanjia Wang, Yanyuan Ma, Karen Marder, Douglas R. Langbehn

    Published 2012-01-01
    “…Huntington's disease (HD) is a progressive neurodegenerative disorder caused by an expansion of CAG repeats in the IT15 gene. …”
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  6. 646

    Thermal performance and MHD peristaltic flow of hybrid nanofluid (Au-Ta/Blood) in an asymmetric conduit with electro-osmosis and shape factor effects by K. Thirunavukarasan, G. Sucharitha

    Published 2025-02-01
    “…The current research aims to create a mathematical model for targeted drug delivery systems, applicable in areas like cancer treatment, genetic disorder therapies, and infection management. …”
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  7. 647

    The impact of gut microbiome on neuro-autoimmune demyelinating diseases by Pouria Abolfazli, Cristina Nkene Apue Nchama, Brandon Lucke-Wold

    Published 2024-10-01
    “…Genetic predisposition and environmental factors, such as alterations in the gut microbiome, influence these conditions. …”
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  8. 648

    Role of HLA alleles polymorphism in systemic lupus erythematosus: A prospective study from North India by Ranjan S. Rana, Bitan Naik, Mahima Yadav, Usha Singh, Anup Singh, Shailja Singh

    Published 2023-07-01
    “…Background: Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder and has complex etiopathogenesis. The most appropriate hypothesis states that genetic susceptibility in the presence of environmental risk factors predisposes to SLE. …”
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  9. 649
  10. 650

    SPERM QUALITY IN RATS PREDISPOSED TO THE MANIFESTATION OF CATATONIC REACTIONS by M. A. Kleshchev, T. A. Alekhina, L. V. Osadchuk

    Published 2018-07-01
    “…The GC (“genetic” and “catatonia”) rat strain was obtained from the Wistar rat strain by a long selection (78 generations) for the catatonic type of reaction and is a model of schizophrenic and depressive disorders in humans. …”
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  11. 651

    Anomalous Coronary Artery Origin in a Young Patient with Marfan Syndrome by S. B. C. P. Duarte, D. O. Beraldo, L. A. M. Cesar, A. P. Mansur, J. Y. Takada

    Published 2017-01-01
    “…Marfan syndrome is an autosomal dominant genetic disorder that affects connective tissue and is caused by mutations in the fibrillin 1 gene present at chromosome 15. …”
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  12. 652
  13. 653

    The Most Important Risk Factors Among Angina Patients in Thi-Qar Governorate in Iraq by Amel Mustafa Kamil, Mohammed Munis Dakheel, Tehsen Ali Kadhem

    Published 2021-06-01
    “…It may occur as an angina attack that typically lasts from 1 to 15 minutes; however, angina is not only a disorder, but is also a symptom of heart disease.  …”
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  14. 654

    Looking outside the box with a pathology aware AI approach for analyzing OCT retinal images in Stargardt disease by Parisa Khateri, Tiana Koottungal, Damon Wong, Rupert W. Strauss, Lucas Janeschitz-Kriegl, Maximilian Pfau, Leopold Schmetterer, Hendrik P. N. Scholl

    Published 2025-02-01
    “…Abstract Stargardt disease type 1 (STGD1) is a genetic disorder that leads to progressive vision loss, with no approved treatments currently available. …”
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  15. 655

    Quality of Life in Wilson’s Disease: A Systematic Literature Review by Chakrapani Balijepalli, Kevin Yan, Lakshmi Gullapalli, Stephane Barakat, Helene Chevrou-Severac, Eric Druyts

    Published 2021-12-01
    “…**Background:** Wilson’s disease (WD) is a rare inherited genetic disorder characterized by the progressive accumulation of copper in the brain, liver, and other major organ systems. …”
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  16. 656

    46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya by Christian Omoaghe

    Published 2025-01-01
    “…ABSTRACT Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. …”
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  17. 657

    SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency by Brendan Connolly, Cleo Isaacs, Lei Cheng, Kirtika H. Asrani, Romesh R. Subramanian

    Published 2018-01-01
    “…Alpha-1-antitrypsin (AAT) deficiency is a genetic disorder that produces inactive/defective AAT due to mutations in the SERPINA1 gene encoding AAT. …”
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  18. 658

    Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta by Masato Kimura, Shuhei Kakizaki, Kengo Kawano, Shinichi Sato, Shigeo Kure

    Published 2013-01-01
    “…Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant genetic disorder with a prevalence of 1 in 3,000 (0.03%) at birth. …”
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  19. 659
  20. 660

    Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant by Antheia Kissopoulou, Eva Fernlund, Christina Holmgren, Eira Isaksson, Jan‐Erik Karlsson, Henrik Green, Jon Jonasson, Rada Ellegård, Hanna Klang Årstrand, Anneli Svensson, Cecilia Gunnarsson

    Published 2020-06-01
    “…Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder with increased risk for paroxysmal ventricular arrhythmias and sudden cardiac death. …”
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