Search Results - "genetic testing"

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  1. 901
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    Use of Molecular Genetic Analyses in Danish Routine Newborn Screening by Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen

    Published 2021
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  2. 902
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    Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature by Q.C. Wu, L. Sun, Y.S. Xu, X.M. Yang, L.K. Zheng

    Published 2020
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  3. 903
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    Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review by Yandie Li, Meiping Yu, Meiping Lu

    Published 2022
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  4. 904
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    Understanding Taiwanese Women's Decisional Experiences Regarding Prenatal Screening Procedures And Diagnostics: A Phenomenological Study by Mei-Man Chen, Bi-Hua Cheng

    Published 2020
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  5. 905
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    Hunter Syndrome: Clinical Case of Early Diagnostics by Natalya N. Martynovich, Yulia P. Semshchikova, Natalya Yu. Rudenko, Vera M. Shinkareva, Kristina V. Egorycheva

    Published 2020
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  6. 906
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    Monozygotic Pregnancies Following Assisted Reproductive Technology: A Review by Mariano Mascarenhas, Keerthi Gnanaprabha

    Published 2016
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  7. 907
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    Clinical application of high throughput molecular screening techniques for pharmacogenomics by Wiita AP, Schrijver I

    Published 2011
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  8. 908
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    Chapter 8 The BRCA patent controversies An international review of patent disputes by van Zimmeren, Esther

    Published 2014
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  9. 909
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    Testing Knowledge Toward an Ecology of Diagnosis, Preceded by the Dingdingdong Manifesto by Solhdju, Katrin

    Published 2021
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  10. 910
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    Consanguinity - Its Impact, Consequences and Management

    Published 2014
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  11. 911
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    Embryo cryopreservation: the significant other of ART / Nor-Ashikin Mohamed Noor Khan and Mimi-Sophia Sarbandi by Mohamed Noor Khan, Nor-Ashikin, Sarbandi, Mimi-Sophia

    Published 2023
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  12. 912
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    Dilated Cardiomyopathy From Genetics to Clinical Management /

    Published 2019
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  13. 913
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    Challenges in Managing Patients with Hereditary Cancer at Gynecological Services by Mako Ueda, Hiroshi Tsubamoto, Mina Kashima-Morii, Yoshitaka Torii, Mariko Kamihigashi, Yu Wakimoto, Nami Nakagomi, Tomoko Hashimoto-Tamaoki, Hideaki Sawai, Hiroaki Shibahara

    Published 2019
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  14. 914
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    Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice by Anna L. Gray, Leonette Annan, James R. T. Dick, Albert R. La Spada, Michael G. Hanna, Linda Greensmith, Bilal Malik

    Published 2020
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  15. 915
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    Successful treatment of juvenile polyposis of infancy with sirolimus: a case report by Pei Xiao, Ting Zhang, Yizhong Wang, Yongmei Xiao, Xiaolu Li, Ruixue Wang, Youran Li, Ting Song

    Published 2024
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  16. 916
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    Increased diagnostic yield by reanalysis of data from a hearing loss gene panel by Yu Sun, Jiale Xiang, Yidong Liu, Sen Chen, Jintao Yu, Jiguang Peng, Zijing Liu, Lisha Chen, Jun Sun, Yun Yang, Yaping Yang, Yulin Zhou, Zhiyu Peng

    Published 2019
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  17. 917
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    BRCA immunohistochemistry for screening of BRCA mutation in epithelial ovarian cancer patients by Tarinee Manchana, Patou Tantbirojn, Natkrita Pohthipornthawat

    Published 2020
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  18. 918
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    PAnno: A pharmacogenomics annotation tool for clinical genomic testing by Yaqing Liu, Zipeng Lin, Qingwang Chen, Qiaochu Chen, Leqing Sang, Yunjin Wang, Yunjin Wang, Leming Shi, Li Guo, Li Guo, Ying Yu

    Published 2023
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  19. 919
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    Polydactyly and Single Umbilical Artery: Lesser Known Associations with Beckwith-Weidemann Syndrome by Deepika Rustogi

    Published 2022
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  20. 920
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    Enhancing clinical utility: deep learning-based embryo scoring model for non-invasive aneuploidy prediction by Bing-Xin Ma, Guang-Nian Zhao, Zhi-Fei Yi, Yong-Le Yang, Lei Jin, Bo Huang

    Published 2024
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