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Research article

First published 2017

Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach

Nicolas Wein, Adeline Vulin, Andrew R. Findlay [...]

Journal of Neuromuscular Diseases

Open access

Brief report

First published 2024-04-30

Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study

Stefan Nicolau, Jyoti Malhotra, Maryann Kaler [...]

Journal of Neuromuscular Diseases

Retricted access

Brief report

First published 2000-03

Exon Deletions and Duplications in BRCA1 Detected by Semiquantitative PCR

M. D. Robinson, C. E. Chu, G. Turner [...]

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2012

Hypertension and Biliary Ductopenia in a Patient with Duplication of Exon 6 of the JAG1 Gene

J. Uberos, L. Moreno, A. Muñoz-Hoyos

Clinical Medicine Insights: Pediatrics

Retricted access

Research article

First published 2016-01

Allelic Frequency of a 24-bp Duplication in Exon 10 of the CHIT1 Gene in the General Iranian Population

Behrooz Motlagh, Mohammad Taghikhani, Shohreh Khatami [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2021-11

Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications

Nicolas Wein, Diane M. Dunn, Megan A. Waldrop [...]

Human Gene Therapy

Retricted access

Research article

First published 2017-8

EGFR Exon 20 Insertion/Duplication Mutation in Fibrous Hamartoma of Infancy With Predominantly Pseudoangiomatous Pattern Mimicking Giant Cell Fibroblastoma

Natalie Ellington, Jason Y. Park, Kathryn King [...]

International Journal of Surgical Pathology

Free access

Research article

First published 2021-3

Internal Tandem Duplication of Exon 8 of c-kit Is Associated With Longer Total Survival in Canine Cutaneous Mast Cell Tumors

Bouvien A. W. Brocks, Christof A. Bertram, Alexander Bartel [...]

Veterinary Pathology

Free access

Research article

First published 2007-12

Self-Alignments to Detect Mutually Exclusive Exon Usage

Martin Stephan, Friedrich Möller, Thomas Wiehe [...]

In Silico Biology

Retricted access

Research article

First published 2019-07

MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study

Zeeshan Ansar, Asghar Nasir, Tariq Moatter [...]

Genetic Testing and Molecular Biomarkers

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