Search Results - "genetic testing"

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  1. 621
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    A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy by Amelia Caretto, Liviana Primerano, Francesca Novara, Orsetta Zuffardi, Stefano Genovese, Maurizio Rondinelli

    Published 2014
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  2. 622
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    Genetics of malignant hyperthermia: A brief update by David Beebe, Vikram V Puram, Srdjan Gajic, Bharat Thyagarajan, Kumar G Belani

    Published 2020
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  3. 623
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    A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the gene by Min Young Lee, Ga Won Jeon, Ji Mi Jung, Jong Beom Sin

    Published 2010
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  4. 624
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    Acute Aortic Dissection in Pregnancy in a Woman with Undiagnosed Marfan Syndrome by Mandana Master, Gavin Day

    Published 2012
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  5. 625
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    Breast Cancer Gene Research and Medical Practices Transnational Perspectives in the Time of BRCA

    Published 2014
    OAPEN Library: description of the publication
    Electronic Book Chapter

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  6. 626
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    Mammographies The Cultural Discourses of Breast Cancer Narratives by DeShazer, Mary K.

    Published 2013
    OAPEN Library: download the publication
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    Electronic Book Chapter

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  7. 627
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    Investigating developmental characteristics of biopsied blastocysts stratified by mitochondrial copy numbers using time-lapse monitoring by Chun-I Lee, Ching-Ya Su, Hsiu-Hui Chen, Chun-Chia Huang, En-Hui Cheng, Tsung-Hsien Lee, Pin-Yao Lin, Tzu-Ning Yu, Chung-I Chen, Ming-Jer Chen, Maw-Sheng Lee, Chien-Hong Chen

    Published 2024
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  8. 628
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    Tailored treatments in inborn errors of immunity associated with atopy (IEIs-A) with skin involvement by Carmela Giancotta, Nicole Colantoni, Lucia Pacillo, Lucia Pacillo, Veronica Santilli, Donato Amodio, Emma Concetta Manno, Nicola Cotugno, Nicola Cotugno, Gioacchino Andrea Rotulo, Gioacchino Andrea Rotulo, Beatrice Rivalta, Beatrice Rivalta, Andrea Finocchi, Andrea Finocchi, Caterina Cancrini, Caterina Cancrini, Andrea Diociaiuti, May El Hachem, Paola Zangari

    Published 2023
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  9. 629
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    Premature ovarian failure related to trisomy X: Two case reports with an aberrant 47, XXX karyotype by Paresh Singhal, Sharanjit Singh, Praveen Kumar, Nikita Naredi

    Published 2021
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  10. 630
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    Triple synchronous primary malignancies of the colon, endometrium and kidney in a patient with Lynch syndrome treated via minimally invasive techniques by Luis E. Mendez, Jacqueline Atlass

    Published 2016
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  11. 631
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    Pancreaticopleural fistula in children with chronic pancreatitis: a case report and literature review by Jia-yu Zhang, Zhao-hui Deng, Biao Gong

    Published 2020
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  12. 632
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    Familial Currarino Syndrome by Jim C. Yip, Soundappan V.S. Soundappan, Andrew J.A. Holland

    Published 2020
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  13. 633
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    Hereditary Leiomyomatosis and Renal Cell Cancer by Anders Würgler Hansen, Zahràa Chayed, Kristine Pallesen, Ileana Codruta Vasilescu, Anette Bygum

    Published 2020
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  14. 634
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    Modern Aspects of Celiac Disease Diagnosis in Children by Aelita A. Kamalova, Daria O. Timofeeva, Almazia R. Shakirova

    Published 2020
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  15. 635
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    Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings by Véronique Taché, Liga Bivina, Sophie White, Jeffrey Gregg, Joshua Deignan, Simeon A. Boyadjievd, Francis R. Poulain

    Published 2016
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  16. 636
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    A structured approach to iron refractory iron deficiency anemia (IRIDA) diagnosis (SAID): The more is "SAID" about iron, the less it is by Prateek Bhatia, Richa Jain, Aditya Singh

    Published 2017
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  17. 637
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    Genetic Profile Analysis of a Patient with Metachronous Gastric Cancer with a Family History of Gastrointestinal Cancers by Chung Min Han, Yuri Hwang, Chan Kyung Kim, Jung Hwan Oh

    Published 2017
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  18. 638
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    Prenatal Diagnosis of Arhinia by Gregory E. Zemtsov, Anthony E. Swartz, Jeffrey A. Kuller

    Published 2022
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  19. 639
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    Dupilumab Improves Pruritus in Netherton Syndrome: A Case Study by Yutaka Inaba, Nobuo Kanazawa, Kyoko Muraoka, Azusa Yariyama, Ami Kawaguchi, Kayo Kunimoto, Chikako Kaminaka, Yuki Yamamoto, Kaoru Tsujioka, Akira Yoshida, Teruki Yanagi, Masatoshi Jinnin

    Published 2022
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  20. 640
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    Lynch syndrome: An unusal case of familial cancer unearthed by Subhra Dhar, Ashraf U Mannan, J Jaya Singh, Sandipan Dhar, Swetalina Pradhan

    Published 2022
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