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Deletion mutation

Phylogenomic analysis and Mycobacterium tuberculosis antibiotic resistance prediction by whole-genome sequencing from clinical isolates of Caldas, Colombia

Lusayda Sánchez-Corrales, Olga Lucía Tovar-Aguirre, Narmer Fernando Galeano-Vanegas, Paula Alejandra Castaño Jiménez, Ruth Arali Martínez-Vega, Carlos Ernesto Maldonado-Londoño, Johan Sebastián Hernández-Botero, Fernando Siller-López

published 07 Oct 2021

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Molecular dynamics and protein frustration analysis of human fused in Sarcoma protein variants in Amyotrophic Lateral Sclerosis type 6: An In Silico approach

L. F. S. Bonet, J. P. Loureiro, G. R. C. Pereira, A. N. R. Da Silva, J. F. De Mesquita

published 29 Sep 2021

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Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history

Fatiha Salmi, Fatima Maachi, Amal Tazzite, Rachid Aboutaib, Jamal Fekkak, Houssine Azeddoug, Hassan Jouhadi

published 09 Jul 2021

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North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up

Giorgia Coratti, Marika Pane, Claudia Brogna, Valeria Ricotti, Sonia Messina, Adele D’Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C. Previtali, Luisa Politano, Giacomo P. Comi, Valeria A. Sansone, Alice Donati, Jean Yves Hogrel, Volker Straub, Silvana De Lucia, Erik Niks, Laurent Servais, Imelda De Groot, Mary Chesshyre, Enrico Bertini, Nathalie Goemans, Francesco Muntoni, Eugenio Mercuri, on behalf on the International DMD Group and the iMDEX Consortium

published 25 Jun 2021

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Real-world outcomes of first- and second-generation tyrosine kinase inhibitors first-line in patients with epidermal growth factor receptor mutation-positive non-small cell lung cancer: A retrospective observational cohort study

Wei-Wei Ng, Chen-Chun Lin, Ching-Yuan Cheng, Jiunn-Song Jiang, Shang-Jyh Kao, Diana Yuwung Yeh

published 24 Jun 2021

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Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre

Ivana Babić Božović, Aleš Maver, Lea Leonardis, Marija Meznaric, Damjan Osredkar, Borut Peterlin

published 09 Jun 2021

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Improved transformation efficiency of group A Streptococcus by inactivation of a type I restriction modification system

Meredith B. Finn, Kathryn M. Ramsey, Hunter J. Tolliver, Simon L. Dove, Michael R. Wessels

published 29 Apr 2021

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Epidemiological and clinical burden of EGFR Exon 20 insertion in advanced non-small cell lung cancer: A systematic literature review

Heather Burnett, Helena Emich, Chris Carroll, Naomi Stapleton, Parthiv Mahadevia, Tracy Li

published 08 Mar 2021

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Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant

Maan Abdullah Albarry, Muhammad Latif, Ahdab Qasem Alreheli, Mohammed A. Awadh, Ahmad M. Almatrafi, Alia M. Albalawi, Sulman Basit

published 11 Feb 2021

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Tyrosyl-DNA phosphodiesterases are involved in mutagenic events at a ribonucleotide embedded into DNA in human cells

Ayuna Takeishi, Hiroyuki Kogashi, Mizuki Odagiri, Hiroyuki Sasanuma, Shunichi Takeda, Manabu Yasui, Masamitsu Honma, Tetsuya Suzuki, Hiroyuki Kamiya, Kaoru Sugasawa, Kiyoe Ura, Akira Sassa

published 31 Dec 2020

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Limitations of rapid diagnostic tests in malaria surveys in areas with varied transmission intensity in Uganda 2017-2019: Implications for selection and use of HRP2 RDTs

Agaba B. Bosco, Joaniter I. Nankabirwa, Adoke Yeka, Sam Nsobya, Karryn Gresty, Karen Anderson, Paul Mbaka, Christiane Prosser, David Smith, Jimmy Opigo, Rhoda Namubiru, Emmanuel Arinaitwe, John Kissa, Samuel Gonahasa, Sungho Won, Bora Lee, Chae Seung Lim, Charles Karamagi, Qin Cheng, Joan K. Nakayaga, Moses R. Kamya

published 31 Dec 2020

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Genetic interactions among ADAMTS metalloproteases and basement membrane molecules in cell migration in Caenorhabditis elegans

Ayaka Imanishi, Yuma Aoki, Masaki Kakehi, Shunsuke Mori, Tomomi Takano, Yukihiko Kubota, Hon-Song Kim, Yukimasa Shibata, Kiyoji Nishiwaki

published 02 Dec 2020

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Development of an immuno-wall device for the rapid and sensitive detection of EGFR mutations in tumor tissues resected from lung cancer patients

Naoyuki Yogo, Tetsunari Hase, Toshihiro Kasama, Keine Nishiyama, Naoya Ozawa, Takahiro Hatta, Hirofumi Shibata, Mitsuo Sato, Kazuki Komeda, Nozomi Kawabe, Kohei Matsuoka, Toyofumi Fengshi Chen-Yoshikawa, Noritada Kaji, Manabu Tokeshi, Yoshinobu Baba, Yoshinori Hasegawa

published 16 Nov 2020

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