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Mutation detection

PIK3CA mutations in breast cancer: A Tunisian series

Mariem Ben Rekaya, Farah Sassi, Essya Saied, Linda Bel Haj Kacem, Nada Mansouri, Sinda Zarrouk, Saifeddine Azouz, Soumaya Rammeh

published 17 May 2023

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Diagnostic performance of the GenoType MTBDRplus VER 2.0 line probe assay for the detection of isoniazid resistant Mycobacterium tuberculosis in Ethiopia

Shewki Moga, Kidist Bobosha, Dinka Fikadu, Betselot Zerihun, Getu Diriba, Misikir Amare, Russell R. Kempker, Henry M. Blumberg, Tamrat Abebe

published 26 Apr 2023

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Rapid genomic surveillance of SARS-CoV-2 in a dense urban community of Kathmandu Valley using sewage samples

Rajindra Napit, Prajwol Manandhar, Ashok Chaudhary, Bishwo Shrestha, Ajit Poudel, Roji Raut, Saman Pradhan, Samita Raut, Pragun G. Rajbhandari, Anupama Gurung, Rajesh M. Rajbhandari, Sameer M. Dixit, Jessica S. Schwind, Christine K. Johnson, Jonna K. Mazet, Dibesh B. Karmacharya

published 30 Mar 2023

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Detection of BRAF mutations in malignant melanoma and colorectal cancer by SensiScreen^® FFPE BRAF qPCR assay

Anna Lahn Sørensen, Mariann Guldmann-Christensen, Michael Børgesen, Rasmus Koefoed Petersen, Katharina Flugt, Julie Mejer Holmgaard Duelund, Majbritt Hauge Kyneb, Jan Lorenzen, Emma Pipó-Ollé, Samantha Epistolio, Alice Riva, Giulia Dazio, Elisabetta Merlo, Tine Meyer, Ulf Bech Christensen, Milo Frattini

published 09 Feb 2023

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Molecular evidence of parallel evolution in a cyanophage

Jesslyn Tjendra, Julia E. Storesund, Håkon Dahle, Ruth-Anne Sandaa, Selina Våge

published 09 Feb 2023

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Epicardial conduction abnormalities in patients with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and mutation positive healthy family members – A study using electrocardiographic imaging

Varvara Kommata, Elena Sciaraffia, Carina Blomström-Lundqvist

published 05 Jan 2023

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Selection of genotypes harbouring mutations in the cytochrome b gene of Theileria annulata is associated with resistance to buparvaquone

Selin Hacılarlıoglu, Huseyin Bilgin Bilgic, Serkan Bakırcı, Andrew Tait, William Weir, Brian Shiels, Tulin Karagenc

published 04 Jan 2023

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High prevalence of low-allele-fraction somatic mutations in STAT3 in peripheral blood CD8+ cells in multiple sclerosis patients and controls

Miko Valori, Joonas Lehikoinen, Lilja Jansson, Jonna Clancy, Sofie A. Lundgren, Satu Mustjoki, Pentti Tienari

published 28 Nov 2022

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Molecular diversity of hepatitis B virus among pregnant women in Amhara National Regional State, Ethiopia

Mulat Dagnew, Feleke Moges, Moges Tiruneh, Yihenew Million, Aschalew Gelaw, Mulat Adefris, Yeshambel Belyhun, Uwe G. Liebert, Melanie Maier

published 15 Nov 2022

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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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