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Complex Molecular Diagnostics

Iowa Experience with Optical Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD)

Bionano Optical Genome Mapping and Southern Blot Analysis for FSHD Detection

Evaluation of Optical Genome Mapping for the Study of Repeate Expansion Disorders and Complex Constitutional Cases: First Results from Bambino Gesu Children’s Hospital

Detection of Familial Adult Myoclonic Epilepsy Type 3 (FAME3) Repeat Expansion Using Optical Genome Mapping

AT-Rich Repeat Expansions in Familial Adult Myoclonic Epilepsy: Size Matters!

Identification of Hidden Structural Variations With Optical Genome Mapping

High-Density Optical Mapping & Long-Read Sequencing Decipher Structural Composition of ATXN10 Repeat Expansion

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