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Point mutation

Ten-year persistence and evolution of Plasmodium falciparum antifolate and anti-sulfonamide resistance markers pfdhfr and pfdhps in three Asian countries

Suttipat Srisutham, Wanassanan Madmanee, Jindarat Kouhathong, Kreepol Sutawong, Rupam Tripura, Thomas J. Peto, Rob W. van der Pluijm, James J. Callery, Lek Dysoley, Mayfong Mayxay, Paul N. Newton, Tiengkham Pongvongsa, Bouasy Hongvanthong, Nicholas P. J. Day, Nicholas J. White, Arjen M. Dondorp, Mallika Imwong

published 16 Dec 2022

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Structural basis for matriglycan synthesis by the LARGE1 dual glycosyltransferase

Michael Katz, Ron Diskin

published 13 Dec 2022

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Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy

Kristy Iskandar, Agung Triono, Sunartini, Ery Kus Dwianingsih, Braghmandita Widya Indraswari, Ignatia Rosalia Kirana, Gabriele Ivana, Retno Sutomo, Suryono Yudha Patria, Elisabeth Siti Herini, Gunadi

published 31 Oct 2022

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Knowledge and awareness of mitochondrial diseases among physicians in the tertiary hospitals in Ghana

Eric A. Mensah, Bismark Sarfo, Alfred E. Yawson, Joshua Arthur, Augustine Ocloo

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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Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers

Abdulaziz B. Hamid, Lauren E. Frank, Renee A. Bouley, Ruben C. Petreaca

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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The genomic landscape of canine osteosarcoma cell lines reveals conserved structural complexity and pathway alterations

Kate Megquier, Jason Turner-Maier, Kathleen Morrill, Xue Li, Jeremy Johnson, Elinor K. Karlsson, Cheryl A. London, Heather L. Gardner

published 13 Sep 2022

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Drug susceptibility profiling and genetic determinants of drug resistance in Mycobacterium simiae isolates obtained from regional tuberculosis reference laboratories of Iran

Sara Daneshfar, Azar Dokht Khosravi, Mohammad Hashemzadeh

published 12 Aug 2022

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The prevalence of molecular markers of resistance to sulfadoxine-pyrimethamine among pregnant women at first antenatal clinic attendance and delivery in the forest-savannah area of Ghana

David Kwame Dosoo, Jeffrey A. Bailey, Kwaku Poku Asante, Felix Boakye Oppong, Karamoko Niaré, Jones Opoku-Mensah, Seth Owusu-Agyei, Brian Greenwood, Daniel Chandramohan

published 08 Aug 2022

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Genomic surveillance, evolution and global transmission of SARS-CoV-2 during 2019–2022

Nadim Sharif, Khalid J. Alzahrani, Shamsun Nahar Ahmed, Afsana Khan, Hamsa Jameel Banjer, Fuad M. Alzahrani, Anowar Khasru Parvez, Shuvra Kanti Dey

published 01 Aug 2022

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Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9)

Tomoko Honda, Norihito Kawasaki, Rei Yanagihara, Ryo Tamura, Karin Murakami, Tomomi Ichimiya, Naoki Matsumoto, Shoko Nishihara, Kazuo Yamamoto

published 28 Jul 2022

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Genomic landscapes of canine splenic angiosarcoma (hemangiosarcoma) contain extensive heterogeneity within and between patients

Shukmei Wong, E. J. Ehrhart, Samuel Stewart, Victoria Zismann, Jacob Cawley, Rebecca Halperin, Natalia Briones, Keith Richter, Karthigayini Sivaprakasam, Nieves Perdigones, Tania Contente-Cuomo, Salvatore Facista, Jeffrey M. Trent, Muhammed Murtaza, Chand Khanna, William P. D. Hendricks

published 22 Jul 2022

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