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Mutation detection

Detection of six novel de novo mutations in individuals with low resilience to psychological stress

Esfandiar Azadmarzabadi, Arvin Haghighatfard

published 07 Sep 2021

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Food insecurity, drug resistance and non-disclosure are associated with virologic non-suppression among HIV pregnant women on antiretroviral treatment

Bhavna H. Chohan, Keshet Ronen, Brian Khasimwa, Daniel Matemo, Lusi Osborn, Jennifer A. Unger, Alison L. Drake, Ingrid A. Beck, Lisa M. Frenkel, John Kinuthia, Grace John-Stewart

published 18 Aug 2021

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Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population

Evie Kritioti, Athina Theodosiou, Thibaud Parpaite, Angelos Alexandrou, Nayia Nicolaou, Ioannis Papaevripidou, Nina Séjourné, Bertrand Coste, Violetta Christophidou-Anastasiadou, George A. Tanteles, Carolina Sismani

published 29 Jul 2021

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SARS-CoV-2 variant evolution in the United States: High accumulation of viral mutations over time likely through serial Founder Events and mutational bursts

Rafail Nikolaos Tasakis, Georgios Samaras, Anna Jamison, Michelle Lee, Alexandra Paulus, Gabrielle Whitehouse, Laurent Verkoczy, F. Nina Papavasiliou, Marilyn Diaz

published 23 Jul 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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A new sensitive and fast assay for the detection of EGFR mutations in liquid biopsies

Steffen Grann Jensen, Samantha Epistolio, Cesilie Lind Madsen, Majbritt Hauge Kyneb, Alice Riva, Alessia Paganotti, Jessica Barizzi, Rasmus Koefoed Petersen, Michael Børgesen, Francesca Molinari, Renzo Boldorini, Jan Lorenzen, Erik Sørensen, Ulf Bech Christensen, Estrid Høgdall, Milo Frattini

published 24 Jun 2021

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Nucleophosmin1 and isocitrate dehydrogenase 1 and 2 as measurable residual disease markers in acute myeloid leukemia

Petra Kövy, Zoltán Őrfi, András Bors, András Kozma, László Gopcsa, János Dolgos, Nóra Lovas, József Harasztdombi, Viktor Lakatos, Ágnes Király, Gábor Mikala, István Vályi-Nagy, Péter Reményi, Hajnalka Andrikovics

published 21 Jun 2021

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Rapid detection of multidrug-resistant tuberculosis based on allele-specific recombinase polymerase amplification and colorimetric detection

Nuntita Singpanomchai, Yukihiro Akeda, Kazunori Tomono, Aki Tamaru, Pitak Santanirand, Panan Ratthawongjirakul

published 11 Jun 2021

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CRISPR/Cas9-mediated mutagenesis of sweet basil candidate susceptibility gene ObDMR6 enhances downy mildew resistance

Jeremieh Abram R. Hasley, Natasha Navet, Miaoying Tian

published 10 Jun 2021

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Performance of the Abbott RealTime MTB and RIF/INH resistance assays for the detection of Mycobacterium Tuberculosis and resistance markers in sputum specimens

Bezalem Tesfaye Araya, Kirubel Eshetu Ali, Dereje Assefa Geleta, Saba Gebremichael Tekele, Kassu Desta Tulu

published 12 May 2021

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Detection of new drivers of frequent B-cell lymphoid neoplasms using an integrated analysis of whole genomes

Adrián Mosquera Orgueira, Roi Ferreiro Ferro, José Ángel Díaz Arias, Carlos Aliste Santos, Beatriz Antelo Rodríguez, Laura Bao Pérez, Natalia Alonso Vence, Ággeles Bendaña López, Aitor Abuin Blanco, Paula Melero Valentín, And´res Peleteiro Raindo, Miguel Cid López, Manuel Mateo Pérez Encinas, Marta Sonia González Pérez, Máximo Francisco Fraga Rodríguez, José Luis Bello López

published 04 May 2021

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Evaluation of HA-D222G/N polymorphism using targeted NGS analysis in A(H1N1)pdm09 influenza virus in Russia in 2018–2019

Alexey V. Danilenko, Natalia P. Kolosova, Alexander N. Shvalov, Tatyana N. Ilyicheva, Svetlana V. Svyatchenko, Alexander G. Durymanov, Julia A. Bulanovich, Natalia I. Goncharova, Ivan M. Susloparov, Vasiliy Y. Marchenko, Tatyana V. Tregubchak, Elena V. Gavrilova, Rinat A. Maksyutov, Alexander B. Ryzhikov

published 29 Apr 2021

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Clinicopathological features of 70 desmoid-type fibromatoses confirmed by β-catenin immunohistochemical staining and CTNNB1 mutation analysis

Jiyeon An, Ha Young Woo, Younghan Lee, Hyo Song Kim, Juhyeon Jeong, Sang Kyum Kim

published 29 Apr 2021

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