Search Results - "genetic testing"

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  1. 641
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    Modern Approach to Fabry Disease Diagnosis and Management in Children by Olga Ya. Smirnova, Nato D. Vashakmadze, Maria S. Karaseva, Natalia V. Zhurkova, Anna Yu. Rachkova, Leyla S. Namazova-Baranova

    Published 2024
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  2. 642
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    Fibrocartilaginous mesenchymoma of the tibia with predominant microcystic features: A case report and literature review by Tsuyoshi Saito, Toru Motoi, Yoshiyuki Suehara, Tatsuya Takagi, Taketo Okubo, Taisei Kurihara, Takuo Hayashi, Yuka Yanai, Toshiya Kudo, Yuichiro Maruyama, Kazuo Kaneko, Takashi Yao

    Published 2019
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  3. 643
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    Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6 by Mohammed Abdulmageed Kambal, Doha Ayed Al-Harbi, Areej Rashed Al-Sunaid, Mohsen Suliaman Al-Atawi

    Published 2019
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  4. 644
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    New Frontiers in IVF: mtDNA and autologous germline mitochondrial energy transfer by Mauro Cozzolino, Diego Marin, Giovanni Sisti

    Published 2019
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  5. 645
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    Papillary cystadenoma of the epididymis by Olga Lopez, Hisham F. Bahmad, Ruben Delgado, Billy H. Cordon, Robert Poppiti, Lydia Howard

    Published 2022
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  6. 646
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    Pulmonary alveolar microlithiasis: A case report with a novel mutation in the SLC34A2 gene and review of the literature by Caroline T. Simon, MD, Toby C. Lewis, MD, MPH, Fatima Neemuchwala, MD, Manuel Arteta, MD, Raja Rabah, MD

    Published 2018
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  7. 647
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    Novel Mutation of Gene Observed in Congenital Chloride Diarrhea by Ji Hye Cheon, Na Li Yu, Na Mi Lee

    Published 2023
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  8. 648
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    Prenatal diagnosis of hemivertebrae-A likely association with 7q deletion by Yan-Qin Song, Min Chen, Zhen-ling Yang, Wen-Yin He, Wei-Qiang Liu, Ying Li, Ya-Fei Gong, Jia-Yan Wang, Xiao-Fang Sun, Xin-Jie Chen

    Published 2016
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  9. 649
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    A case of ovarian endometrioid adenocarcinoma with yolk sac differentiation and Lynch syndrome by Janhvi Sookram, Brooke Levin, Julieta Barroeta, Kathy Kenley, Pallav Mehta, Lauren S. Krill

    Published 2019
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  10. 650
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    Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia by Junxia Song, Yanhong Luo, Ying Jiang, Jianfeng He

    Published 2021
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  11. 651
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    A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants by Yongxian Shao, Taolin Li, Minyan Jiang, Jianan Xu, Yonglan Huang, Xiuzhen Li, Ruidan Zheng, Li Liu

    Published 2022
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  12. 652
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    Challenges in the management of hypercalcemia in pregnancy - Case report of two cases by Shu Hui Lim, Weiying Lim, Serene Pei Ting Thain

    Published 2024
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  13. 653
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    Familial hypercholesterolemia: A review by Mithun J Varghese

    Published 2014
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  14. 654
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    NFIA haploinsufficiency: case series and literature review by Gianluca Dini, Alberto Verrotti, Paolo Gorello, Luca Soliani, Luca Soliani, Duccio Maria Cordelli, Duccio Maria Cordelli, Vincenzo Antona, Amedea Mencarelli, Davide Colavito, Paolo Prontera

    Published 2023
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  15. 655
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    Paroxysmal kinesigenic dyskinesia in a patient with a mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl by Sun Young Seo, Su Jeong You

    Published 2016
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  16. 656
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    Crouzon syndrome with acanthosis nigricans: A case report and literature review by Quan Duy Nguyen, Tu Nguyen Anh Tran, Hao Trong Nguyen

    Published 2022
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  17. 657
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    Ethical dilemmas and conflicts in minor patients' care - general review by Andreea Salcudean, Marius-Catalin Cosma, Andreea-Georgiana Nan, Monica Kiss, Maria-Melania Lica (Cozma), Cristina-Raluca Bodo, Gabriela-Elena Strete

    Published 2022
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  18. 658
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    Air quality in the clinical embryology laboratory: a mini-review by Romualdo Sciorio, Erika Rapalini, Sandro C. Esteves

    Published 2021
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  19. 659
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    Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1 by Panida Sriaroon, Yenhui Chang, Boglarka Ujhazi, Krisztian Csomos, Hemant R. Joshi, Qin Zhou, Devin W. Close, Jolan E. Walter, Jolan E. Walter, Attila Kumánovics, Attila Kumánovics, Attila Kumánovics

    Published 2019
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  20. 660
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    Umbilical cord hernia with Meckel's diverticulum by Nadia Laezza, Joana Mafra, Ana Moura Figueiredo, Miguel Branco, Catarina Cunha

    Published 2022
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