Showing 41 - 47 results of 47 for search '"neurogenetics"', query time: 0.04s Refine Results
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    Patient-Specific Pluripotent Stem Cells in Neurological Diseases by Serpen Durnaoglu, Sermin Genc, Kursad Genc

    Published 2011-01-01
    “…Patient-specific iPSC-based modeling of neurogenetic and neurodegenerative diseases is an emerging efficient tool for in vitro modeling to understand disease and to screen for genes and drugs that modify the disease process. …”
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  3. 43

    Dias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report by Yizhuo Shu, Xiaoling Chen, Zhuoqun Wei, Chunyue Chen

    Published 2025-01-01
    “…Dias-Logan syndrome, also known as intellectual developmental disorder with persistence of fetal hemoglobin (HbF), or BCL11A -related intellectual developmental disorder, is an extremely rare neurogenetic disorder characterized by intellectual disability (ID), delayed psychomotor development, variable dysmorphic features, and asymptomatic persistence of fetal hemoglobin. …”
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  4. 44

    Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders by Varun Suroliya, Bharathram Uppili, Manish Kumar, Vineet Jha, Achal K. Srivastava, Mohammed Faruq

    Published 2024-06-01
    “…In this study, we aimed to identify novel unstable CNG repeat loci associated with the neurogenetic disorder spinocerebellar ataxia (SCA). Using a computational approach, 15,069 CNG repeat loci in the coding and noncoding regions of the human genome were identified. …”
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    DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders by Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li

    Published 2025-01-01
    “…Thus, whole-exome sequencing may be recommended for precise diagnosis of neurogenetic diseases in such cases.…”
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