Contraction disorders Archives - Page 2 of 2 - bionanogenomics

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Contraction disorders

Publication Cell Reports

Transcriptome Alterations in Myotonic Dystrophy Frontal Cortex

January 19, 2021

Genetic disease

Repeat expansion

Contraction disorders

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Publication Prenatal Diagnosis

Rapid prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy 1 by combined Bionano optical mapping and karyomapping

November 11, 2019

Genetic disease

Repeat expansion

Contraction disorders

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Publication Journal of Medical Genetics

Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)

September 10, 2019

Genetic disease

Repeat expansion

Contraction disorders

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Publication

Application of Karyomapping for the prenatal diagnosis of five families affected with facioscapulohumerial muscular dystrophy type 1

March 10, 2019

Genetic disease

Repeat expansion

Contraction disorders

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Publication Genome Research

Long-read single-molecule maps of the functional methylome

March 7, 2019

Genetic disease

Repeat expansion

Contraction disorders

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Publication Molecular Genetics and Genomic Medicine

Clinical application of single‐molecule optical mapping to a multigeneration FSHD1 pedigree

January 21, 2019

Genetic disease

Repeat expansion

Contraction disorders

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