List of works - Kishore R Kumar - Paulina

List of works by Kishore R Kumar

A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review

scientific article published on 07 May 2019

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)

scientific article published on 18 December 2019

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

scientific article published on 04 March 2022

Essential thrombocythaemia presenting with subclavian artery thrombosis and multiple embolic events ⬇️

scientific article published on March 17, 2009

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia

scientific article published on 01 February 2019

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing

scientific article published on 01 August 2019

Next-Generation Sequencing and Emerging Technologies

scientific article published on 16 May 2019

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