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Dideoxy DNA sequencing

Generation of full-length circular RNA libraries for Oxford Nanopore long-read sequencing

Steffen Fuchs, Loélia Babin, Elissa Andraos, Chloé Bessiere, Semjon Willier, Johannes H. Schulte, Christine Gaspin, Fabienne Meggetto

published 07 Sep 2022

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Prediction of drug resistance by Sanger sequencing of Mycobacterium tuberculosis complex strains isolated from multidrug resistant tuberculosis suspect patients in Ethiopia

Eyob Abera Mesfin, Matthias Merker, Dereje Beyene, Abreham Tesfaye, Yassir Adam Shuaib, Desalegn Addise, Belay Tessema, Stefan Niemann

published 05 Aug 2022

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Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome

Tadashi Nakajima, Reika Kawabata-Iwakawa, Shuntaro Tamura, Hiroshi Hasegawa, Takashi Kobari, Hideki Itoh, Minoru Horie, Masahiko Nishiyama, Masahiko Kurabayashi, Yoshiaki Kaneko, Hideki Ishii

published 21 Jul 2022

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Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders

Tejashwini Vittal Kumar, Meenakshi Bhat, Sanjeeva Ghanti Narayanachar, Vinu Narayan, Ambika K. Srikanth, Swathi Anikar, Swathi Shetty

published 14 Jul 2022

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Investigating CRISPR/Cas9 gene drive for production of disease-preventing prion gene alleles

Andrew R. Castle, Serene Wohlgemuth, Luis Arce, David Westaway

published 07 Jun 2022

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Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis

Amanda Takáts, Gergő Berke, Noémi Gede, Balázs Csaba Németh, Heiko Witt, Stanisław Głuszek, Agnieszka Magdalena Rygiel, Péter Hegyi, Miklós Sahin-Tóth, Eszter Hegyi

published 20 May 2022

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A real-time PCR method to genotype mutant mouse models with altered affinity for cardiotonic steroids on the Na,K-ATPase

Peter W. Chomczynski, Kianna M. Vires, Michal Rymaszewski, Judith A. Heiny

published 21 Apr 2022

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Molecular alterations in the integrated diagnosis of pediatric glial and glioneuronal tumors: A single center experience

Sandra Lorena Colli, Nazarena Cardoso, Carla Antonella Massone, María Cores, Mercedes García Lombardi, Elena Noemí De Matteo, Mario Alejandro Lorenzetti, María Victoria Preciado

published 01 Apr 2022

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Genotyping of familial Mediterranean fever gene (MEFV)—Single nucleotide polymorphism—Comparison of Nanopore with conventional Sanger sequencing

Jonas Schmidt, Sandro Berghaus, Frithjof Blessing, Holger Herbeck, Josef Blessing, Peter Schierack, Stefan Rödiger, Dirk Roggenbuck, Folker Wenzel

published 17 Mar 2022

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Consecutive deletions in a unique Uruguayan SARS-CoV-2 lineage evidence the genetic variability potential of accessory genes

Yanina Panzera, Lucía Calleros, Natalia Goñi, Ana Marandino, Claudia Techera, Sofía Grecco, Natalia Ramos, Sandra Frabasile, Gonzalo Tomás, Emma Condon, María Noel Cortinas, Viviana Ramas, Leticia Coppola, Cecilia Sorhouet, Cristina Mogdasy, Héctor Chiparelli, Juan Arbiza, Adriana Delfraro, Ruben Pérez

published 17 Feb 2022

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Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder

Pia Laine, William J. Rowell, Lars Paulin, Steve Kujawa, Denise Raterman, George Mayhew, Jennifer Wendt, Daniel L. Burgess, Timo Partonen, Tiina Paunio, Petri Auvinen, Jenny M. Ekholm

published 16 Dec 2021

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Development of an efficient Sanger sequencing-based assay for detecting SARS-CoV-2 spike mutations

Ho Jae Lim, Min Young Park, Hye Soo Jung, Youngjin Kwon, Inhee Kim, Dong Kwan Kim, Nae Yu, Nackmoon Sung, Sun-Hwa Lee, Jung Eun Park, Yong-Jin Yang

published 14 Dec 2021

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Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan

Nabila Kausar, Asma Haque, Muhammad Shareef Masoud, Nazia Nahid, Usman Ali Ashfaq, Ali Muhammad Waryah, Rashid Bhatti, Muhammad Qasim

published 25 Oct 2021

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