Showing 4,021 - 4,040 results of 11,391 for search '"genetics"', query time: 0.08s Refine Results
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    Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) by Lei Kong, Dongxu Wang, Shanshan Li, Chengsheng Zhang, Xiuyun Jiang, Qingbo Guan, Zhenlin Zhang, Fei Jing, Jin Xu

    Published 2018-01-01
    “…We extracted genomic DNA from five members of a four-generation Chinese SEDT kindred with three affected males and then analyzed the genetic mutation by PCR and DNA sequencing. Results. …”
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  4. 4024

    Modeling Alzheimer’s Disease with Induced Pluripotent Stem Cells: Current Challenges and Future Concerns by Weiwei Zhang, Bin Jiao, Miaojin Zhou, Tao Zhou, Lu Shen

    Published 2016-01-01
    “…In this review, we will first summarize the current research findings on the genetic and pathological mechanisms of AD. We will then highlight the existing induced pluripotent stem cell models of AD and, lastly, discuss the potential clinical applications in this field.…”
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  5. 4025

    Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy by Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar

    Published 2017-01-01
    “…This has reinforced the clinical phenotyping and molecular genetic expertise required to navigate the complexities of such diagnoses. …”
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    Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study by Maria Fuller, Jasmina Markulić

    Published 2025-01-01
    “…Additionally, the identification of CF in this population supports the recommendation for CF genetic testing in reproductive healthcare.…”
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    THE DIVERSITY OF LIFE CYCLES AND THEIR ROLE IN THE EVOLUTION OF BASIC CHROMOSOME NUMBERS IN VARIOUS ORGANISMS by A. I. Shchapova

    Published 2014-12-01
    “…The significant difference among BCNs of the ancestors of the three mammal subclasses, which diverged tens of millions of years ago, suggests that the evolution of BCNS in the ancestors of marsupials and placentals involved polyploidy followed by dysploidy.The species analyzed demonstrate a correlation between life cycle type and BCN.The results indicate that the genetic difference in sex determination systems were the main cause of BCN variation in the species analyzed, differing in life cycle type. …”
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    Protocol for cell image-based spatiotemporal proteomics in budding yeast by Athanasios Litsios, Myra Paz David Masinas, Helena Friesen, Charles Boone, Brenda J. Andrews

    Published 2025-03-01
    “…Variations of this protocol can be applied for the spatiotemporal analysis of the proteome in different contexts, such as genetic and environmental perturbations.For complete details on the use and execution of this protocol, please refer to Litsios et al.1 : Publisher’s note: Undertaking any experimental protocol requires adherence to local institutional guidelines for laboratory safety and ethics.…”
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