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Dideoxy DNA sequencing

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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A novel xenonucleic acid-mediated molecular clamping technology for early colorectal cancer screening

Qing Sun, Larry Pastor, Jinwei Du, Michael J. Powell, Aiguo Zhang, Walter Bodmer, Jianzhong Wu, Shu Zheng, Michael Y. Sha

published 05 Oct 2021

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DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease

Hong Xia, Xiangjun Huang, Sheng Deng, Hongbo Xu, Yan Yang, Xin Liu, Lamei Yuan, Hao Deng

published 16 Jun 2021

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Identification of a genetic variant underlying familial cases of recurrent benign paroxysmal positional vertigo

Yinfang Xu, Yan Zhang, Ivan A. Lopez, Jacey Hilbers, Anthony J. Griswold, Akira Ishiyama, Susan Blanton, Xue Zhong Liu, Yunxia Wang Lundberg

published 06 May 2021

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