Search Results - "genetic testing"

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  1. 1061
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    Our Journey from Individual Efforts to Nationwide Support: Implementing Newborn Screening for Spinal Muscular Atrophy in Serbia by Miloš Brkušanin, Nemanja Garai, Jelena Karanović, Tamara Šljivančanin Jakovljević, Aleksandra Dimitrijević, Kristina Jovanović, Tanja Lazić Mitrović, Željko Miković, Goran Brajušković, Dimitrije Mihailo Nikolić, Dušanka Savić-Pavićević

    Published 2024
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  2. 1062
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    Where the congenital heart disease meets the pulmonary arterial hypertension, FLNA matters: a case report and literature review by Xiaoxian Deng, Shanshan Li, Qiu Qiu, Bowen Jin, Menghuan Yan, Yuanpin Hu, Yang Wu, Hongmei Zhou, Gangcheng Zhang, Xuan Zheng

    Published 2020
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  3. 1063
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    A case of Bartter syndrome type I with atypical presentations by Eun Hye Lee, Ju Sun Heo, Hyun Kyung Lee, Kyung Hee Han, Hee Gyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong

    Published 2010
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  4. 1064
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    Combined oral contraceptives: optimal survey complex by О. В. Рыкова

    Published 2018
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  5. 1065
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    Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn by Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu

    Published 2020
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  6. 1066
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    Ética e medicina preditiva Ethics and predictive medicine by Ítalo Márcio Batista Astoni Júnior, Giovano de Castro Ianotti

    Published 2010
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  7. 1067
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    A randomized controlled trial of analogue pharmacogenomic testing feedback for psychotropic medications by John Young, Aileen Jimenez, Madeline Pruett, Laken Hancock, McCall Schruff

    Published 2023
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  8. 1068
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    KCNQ2 Encephalopathy Showing a Distinct Ictal Amplitude-Integrated Electroencephalographic Pattern by Naeun Kwak, Yun Jeong Lee, Dongsub Kim, Su-Kyeong Hwang, Soonhak Kwon, Eun Joo Lee

    Published 2020
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  9. 1069
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    Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis by Sami Bouchoucha, Asma Chikhaoui, Dorra Najjar, Khouloud Zayoud, Mohamed Zouari, Mohamed Nabil Nessib, Rym Kéfi, Houda Yacoub-Youssef

    Published 2023
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  10. 1070
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    Embryonal tumor with multilayered rosettes in a teenager by Kofi Ulzen-Appiah, Kafui Patrick Akakpo

    Published 2022
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  11. 1071
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    Maturing pharmacogenomic factors deliver improvements and cost efficiencies by Joseph P. Jarvis, Scott E. Megill, Peter Silvester, Jeffrey A. Shaman

    Published 2023
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  12. 1072
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    Two novel CHD7 variants in patients with typical and mild features of CHARGE syndrome co-occurring with esophageal atresia by Devon Michael Evanovich, Anne O'Donnell-Luria, Benjamin Zendejas, Dusica Bajic, Jue Teresa Wang

    Published 2022
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  13. 1073
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    Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids by Pietro Bortoletto, Jennifer L. Lindsey, Liping Yuan, Bradley J. Quade, Antonio R. Gargiulo, Cynthia C. Morton, Elizabeth A. Stewart, Raymond M. Anchan

    Published 2017
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  14. 1074
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    Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon by Ossama K. Abou Hassan, Wiam Haidar, Georges Nemer, Hadi Skouri, Fadi Haddad, Imad BouAkl

    Published 2018
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  15. 1075
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    Impressive clinical response following combined BRAF and MEK inhibition in a low-grade serous ovarian carcinoma patient with a BRAF V600E mutation by Anna Rodzajewska, Weronika Kuryło, Katarzyna Szklener

    Published 2023
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  16. 1076
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    Response to olaparib in metastatic castration-resistant prostate cancer with germline BRCA2 mutation: a case report by Yi Ma, Lijie He, Qianwen Huang, Shuang Zheng, Zhiqiang Zhang, Hongshi Li, Shuang Liu

    Published 2018
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  17. 1077
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    EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report by Tarah H. Fatani

    Published 2019
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  18. 1078
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    NASWAR DIPPING, SHIFT IN BEHAVIOR IN MULTI ETHNICITY SETTING by Haya Naveen, Saeeda Baig, Wasfa Farooq, Hira Attique

    Published 2024
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  19. 1079
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    A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor by Crystal Chang, B.S, Ashish O. Gupta, M.B.B.S., M.P.H, Paul J. Orchard, M.D, David R. Nascene, M.D, Janell Kierstein, M.S, Rebecca K. Tryon, M.S., M.A, Troy C. Lund, M.D., Ph.D

    Published 2023
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  20. 1080
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    A homozygous mutation in the insulin gene () causing autosomal recessive neonatal diabetes in Saudi families by Adnan Al Shaikh, Bader Shirah, Somaya Alzelaye

    Published 2020
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