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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, [ ... ], Swathi Shetty

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

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

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

Amanda Takáts, Gergő Berke, [ ... ], Eszter Hegyi

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

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

Sandra Lorena Colli, Nazarena Cardoso, [ ... ], María Victoria Preciado

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

Jonas Schmidt, Sandro Berghaus, [ ... ], Folker Wenzel

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

Yanina Panzera, Lucía Calleros, [ ... ], Ruben Pérez

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, [ ... ], Jenny M. Ekholm

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

Ho Jae Lim, Min Young Park, [ ... ], Yong-Jin Yang

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

Nabila Kausar, Asma Haque, [ ... ], Muhammad Qasim

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

Qing Sun, Larry Pastor, [ ... ], Michael Y. Sha

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease

Hong Xia, Xiangjun Huang, [ ... ], Hao Deng

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

Yinfang Xu, Yan Zhang, [ ... ], Yunxia Wang Lundberg

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