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Deletion mutation

Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis

Ghada Al-Kafaji, Halla F. Bakheit, Faisal AlAli, Mina Fattah, Saad Alhajeri, Maram A. Alharbi, Abdulqader Daif, Manahel Mahmood Alsabbagh, Materah Salem Alwehaidah, Moiz Bakhiet

published 07 Feb 2022

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Prevalence of targeted therapy-related genetic variations in NSCLC and their relationship with clinicopathological characteristics

Fanghua Li, Peng Ye, Peiling Cai, Dandan Dong, Yihao Zhang, Yue Yang, Xingwang Sun

published 21 Jan 2022

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Genetic diversity in enhancer II region of HBV genotype D and its association with advanced liver diseases

Majid Khan, Sanaullah Khan, Mehrunnisa Fatima Gondal, Safia Bibi, Bakht Tarin Khan, Abdul Majid, Ayesha Khattak, Muhammad Nasir Khabir, Muhammad Anwar, Aisha Gul, Maryam Naseem, Sobia Attaullah

published 04 Jan 2022

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CD8+ cell somatic mutations in multiple sclerosis patients and controls—Enrichment of mutations in STAT3 and other genes implicated in hematological malignancies

Miko Valori, Lilja Jansson, Pentti J. Tienari

published 07 Dec 2021

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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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