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List of works by Samya Chakravorty

Amplification of Orthologous Genes Using Degenerate Primers ⬇️

scientific article published on January 1, 2010

Clinical Utility of Transcriptome Sequencing: Toward a Better Diagnosis for Mendelian Disorders

scientific article published on 02 November 2017

Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion

scientific article published on 29 April 2019

Courtship song analysis of Drosophila muscle mutants.

scientific article published on 16 September 2011

Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin

scientific article published on 30 September 2020

Flightin maintains myofilament lattice organization required for optimal flight power and courtship song quality in Drosophila.

scientific article published in May 2017

Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies

scientific article published on 17 April 2017

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

scientific article published on 01 December 2018

Inferring the effect of genomic variation in the new era of genomics.

scientific article published on 6 April 2018

Mutations of the Drosophila myosin regulatory light chain affect courtship song and reduce reproductive success.

scientific article

Phosphorylation of the regulatory light chain of myosin in striated muscle: methodological perspectives

scientific article

Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

scientific article published on 15 October 2020

Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.

scientific article published on 8 March 2018

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