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Lista de obras de Svetlana Gorokhova

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

artículo científico publicado en 2020

A novel family of transmembrane proteins interacting with beta subunits of the Na,K-ATPase

scientific journal article

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

artículo científico publicado en 2021

Clinical massively parallel sequencing for the diagnosis of myopathies

artículo científico

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

artículo científico publicado en 2015

Direct evidence for the interaction of stathmin along the length and the plus end of microtubules in cells

artículo científico publicado en 2016

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.

artículo científico publicado en 2017

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

scientific article published on 23 August 2018

Growth charts in Kabuki syndrome 1

artículo científico publicado en 2019

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing: Table 1

artículo científico publicado en 2015

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

artículo científico publicado en 1998

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.

artículo científico publicado en 2015

Significant contribution of intragenic deletions to ARID1B mutation spectrum

scientific article published on 20 May 2019

Spindle-derived NT3 in sensorimotor connections: principal role at later stages.

artículo científico publicado en 2009

Uncoupling of molecular maturation from peripheral target innervation in nociceptors expressing a chimeric TrkA/TrkC receptor

artículo científico publicado en 2014

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