about
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated CardiomyopathyA novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.Prelamin A accumulation in endothelial cells induces premature senescence and functional impairment.Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.Impact of loading dose adjustment on platelet reactivity in homozygotes of the 2C19 2* loss of function polymorphism.Analytical evaluation of the Capillarys 2 Flex piercing for routine haemoglobinopathies diagnosis.U1 snRNA mis-binding: a new cause of CMT1B.The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.[Next-generation DNA sequencing in clinical diagnostics].Retrospective study of 75 children with peripheral inherited neuropathy: Genotype-phenotype correlationsMolecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineationTotal and Fetal Cell-Free DNA Analysis in Maternal Blood as Markers of Placental Insufficiency in Intrauterine Growth RestrictionAnalytical evaluation of the Tosoh HLC-723 G8 automated HPLC analyzer for hemoglobin analysis in beta-thalassemia modeThe XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies]A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease
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description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Nathalie Bonello-Palot
@en
Nathalie Bonello-Palot
@nl
type
label
Nathalie Bonello-Palot
@en
Nathalie Bonello-Palot
@nl
prefLabel
Nathalie Bonello-Palot
@en
Nathalie Bonello-Palot
@nl
P31
P496
0000-0002-8657-1271