Search filters

List of works by Karine Nguyen

Clinical and genetic characteristics of late-onset Huntington's disease

scientific article

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

scientific article published on 2 June 2009

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

scientific article published on 10 November 2006

Functional classification of ATM variants in ataxia-telangiectasia patients

scientific article published on 17 May 2019

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.

scientific article published on 25 July 2017

Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients

scientific article

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy

scientific article published on 15 November 2019

Paulina is supported by:

About Paulina

Help