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List of works by Nathalie Bonello-Palot

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

scientific article published on 25 April 2016

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

scientific article published on 27 May 2019

A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.

scientific article

Analytical evaluation of the Capillarys 2 Flex piercing for routine haemoglobinopathies diagnosis.

scientific article published on 4 September 2012

Analytical evaluation of the Tosoh HLC-723 G8 automated HPLC analyzer for hemoglobin analysis in beta-thalassemia mode

scientific article published on 28 December 2010

Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.

scientific article published on 10 December 2015

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

scientific article

HbF-promoting polymorphisms may specifically reduce the residual risk of cerebral vasculopathy in SCA children with alpha-thalassemia

scientific article published on 16 November 2020

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

scientific article published on 18 December 2019

Impact of loading dose adjustment on platelet reactivity in homozygotes of the 2C19 2* loss of function polymorphism.

scientific article published on 26 August 2009

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

scientific article published on 28 October 2018

Next-generation DNA sequencing in clinical diagnostics

scientific article published on 24 February 2017

Prelamin A accumulation in endothelial cells induces premature senescence and functional impairment

scientific article published on 28 August 2014

Retrospective study of 75 children with peripheral inherited neuropathy: Genotype-phenotype correlations

scientific article published on 16 October 2018

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

scientific article published on 20 December 2011

The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients

scientific article published on 15 May 2010

Total and Fetal Cell-Free DNA Analysis in Maternal Blood as Markers of Placental Insufficiency in Intrauterine Growth Restriction

scientific article published on 10 October 2009

U1 snRNA mis-binding: a new cause of CMT1B.

scientific article published on 28 May 2009

[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies]

scientific article published on 01 July 2010

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