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Mutation detection

Impact of prothrombin and factor V Leiden mutations on the progression of fibrosis in patients with chronic hepatitis C

Mary Naguib, Wael Abdel-Razek, Suzanne Estaphan, Eman Abdelsameea, Mohamed Abdel-Samiee, Nevine F. Shafik

published 10 Nov 2022

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First insights into the phylogenetic diversity of Mycobacterium tuberculosis in Kuwait and evaluation of REBA MTB-MDR assay for rapid detection of MDR-TB

Noura M. Al-Mutairi, Suhail Ahmad, Eiman Mokaddas, Sahal Al-Hajoj

published 20 Oct 2022

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Analytical and clinical validation of a custom 15-gene next-generation sequencing panel for the evaluation of circulating tumor DNA mutations in patients with advanced non-small-cell lung cancer

Yock Ping Chow, Norziha Zainul Abidin, Ken Siong Kow, Lye Mun Tho, Chieh Lee Wong

published 18 Oct 2022

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A RT-qPCR system using a degenerate probe for specific identification and differentiation of SARS-CoV-2 Omicron (B.1.1.529) variants of concern

Randi Jessen, Line Nielsen, Nicolai Balle Larsen, Arieh Sierra Cohen, Vithiagaran Gunalan, Ellinor Marving, Alonzo Alfaro-Núñez, Charlotta Polacek, The Danish COVID-19 Genome Consortium (DCGC) , Anders Fomsgaard, Katja Spiess

published 05 Oct 2022

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Assessment of minority frequency pretreatment HIV drug-resistant variants in pregnant women and associations with virologic non-suppression at term

Ceejay L. Boyce, Ingrid A. Beck, Sheila M. Styrchak, Samantha R. Hardy, Jackson J. Wallner, Ross S. Milne, R. Leavitt Morrison, David E. Shapiro, Esaú C. João, Mark H. Mirochnick, Lisa M. Frenkel

published 27 Sep 2022

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Analysis of SARS-CoV-2 viral loads in stool samples and nasopharyngeal swabs from COVID-19 patients in the United Arab Emirates

Mariane Daou, Hussein Kannout, Mariam Khalili, Mohamed Almarei, Mohamed Alhashami, Zainab Alhalwachi, Fatima Alshamsi, Mohammad Tahseen Al Bataineh, Mohd Azzam Kayasseh, Abdulmajeed Al Khajeh, Shadi W. Hasan, Guan K. Tay, Samuel F. Feng, Dymitr Ruta, Ahmed F. Yousef, Habiba S. Alsafar, on behalf of the UAE COVID-19 Collaborative Partnership

published 22 Sep 2022

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MalFuzz: Coverage-guided fuzzing on deep learning-based malware classification model

Yuying Liu, Pin Yang, Peng Jia, Ziheng He, Hairu Luo

published 15 Sep 2022

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Development of E-ice-COLD-PCR assay combined with HRM analysis for Nucleophosmin1 gene mutation detection in acute myelogenous leukemia

Rattana Kongta, Noppamas Panyasit, Wuttichote Jansaento, Suwit Duangmano

published 14 Sep 2022

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Minimum inhibitory concentrations of rifampin and isoniazid among multidrug and isoniazid resistant Mycobacterium tuberculosis in Ethiopia

Muluwork Getahun, Henry M. Blumberg, Gobena Ameni, Dereje Beyene, Russell R. Kempker

published 13 Sep 2022

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Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants

Weronika Przybyła, Kirsti Marie Gjersvoll Paulsen, Charitra Kumar Mishra, Ståle Nygård, Solveig Engebretsen, Ellen Ruud, Gunhild Trøen, Klaus Beiske, Lars Oliver Baumbusch

published 29 Aug 2022

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Mutations in the TERC template sequence can be incorporated into the telomeres of human tumors

Radwa Sharaf, Garrett M. Frampton, Lee A. Albacker

published 25 Aug 2022

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Prediction of drug resistance by Sanger sequencing of Mycobacterium tuberculosis complex strains isolated from multidrug resistant tuberculosis suspect patients in Ethiopia

Eyob Abera Mesfin, Matthias Merker, Dereje Beyene, Abreham Tesfaye, Yassir Adam Shuaib, Desalegn Addise, Belay Tessema, Stefan Niemann

published 05 Aug 2022

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Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome

Tadashi Nakajima, Reika Kawabata-Iwakawa, Shuntaro Tamura, Hiroshi Hasegawa, Takashi Kobari, Hideki Itoh, Minoru Horie, Masahiko Nishiyama, Masahiko Kurabayashi, Yoshiaki Kaneko, Hideki Ishii

published 21 Jul 2022

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