Associated Papers
Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.
De Palma FDE et al.
Diagnostics (basel, Switzerland), 2021
Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.
Elhawary NA et al.
Human Genomics, 2018
DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.
Zhou J et al.
Bmc Bioinformatics, 2017
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
Okubo M et al.
Journal of Human Genetics, 2016
Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells.
Renwick P et al.
Reproductive Biomedicine Online, 2010
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