165 results on '"Bonello-Palot, Nathalie"'
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2. Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo
3. Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
4. Phenotype–genotype correlation in X‐linked Charcot‐Marie‐Tooth disease: A French cohort study.
5. Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions.
6. Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)
7. Corrélation phénotype-génotype dans la maladie de Charcot-Marie-Tooth liée à l’X : une étude de cohorte française
8. High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome
9. Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness
10. Clinical and genetic features of patients suffering from CMT4J
11. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
12. Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease
13. Les thalassémies en 2016
14. Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.
15. Caractéristiques cliniques et électrophysiologiques des femmes atteintes de la maladie de Charcot-Marie-Tooth liée à l’X
16. SORD‐related peripheral neuropathy in a French and Swiss cohort: clinical features, genetic analysis and sorbitol dosage.
17. Double Trouble Mutations Underlie Mitochondrial Dynamics Disorders in a Severe Form of Charcot-Marie-Tooth Disease
18. Prelamin A accumulation in endothelial cells induces premature senescence and functional impairment
19. Transfusion requirements and complication rate in β-thalassemia intermedia due to heterozygous β-globin gene mutation and triplicated α-globin genes.
20. HINT1 neuropathy: Expanding the genotype and phenotype spectrum
21. The XmnI Gγ polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L- MYB SNPs in a cohort of 57 β-thalassemia intermedia patients
22. Impact of P2Y12-ADP receptor polymorphism on the efficacy of clopidogrel dose-adjustment according to platelet reactivity monitoring in coronary artery disease patients
23. A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing
24. A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell Senescence
25. A novel SUPT5H variant associated with a beta‐thalassaemia trait
26. Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene
27. Relation of Body Mass Index to High On-Treatment Platelet Reactivity and of Failed Clopidogrel Dose Adjustment According to Platelet Reactivity Monitoring in Patients Undergoing Percutaneous Coronary Intervention
28. Prelamin accumulation in primary endothelial cells induces premature senescence and activation
29. Genotype–phenotype correlation in French patients with myelin protein zero gene‐related inherited neuropathy
30. HbF-promoting polymorphisms may specifically reduce the residual risk of cerebral vasculopathy in SCA children with alpha-thalassemia
31. Reply: MFN2, a new gene responsible for mitochondrial DNA depletion
32. Reply: MFN2 mutations cause compensatory mitochondrial DNA proliferation
33. The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype
34. Refining NGS diagnosis of muscular disorders
35. Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation
36. Unraveling LMNA Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls
37. Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene
38. A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)
39. Three Mexican Families with β thalassemia intermedia with different molecular basis
40. Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation
41. Retrospective analysis and reclassification of DYSFvariants in a large French series of dysferlinopathy patients
42. A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy
43. Diagnostic approach to hemoglobins with high oxygen affinity: experience from France and Belgium and review of the literature
44. Diagnostic approach to hemoglobins with high oxygen affinity: experience from France and Belgium and review of the literature
45. Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation
46. Refining NGS diagnosis of muscular disorders.
47. Department of Otolaryngology, University of Michigan, Ann Arbor, Ann Arbor, Michigan, USA.
48. A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family
49. Bases moléculaires des syndromes thalassémiques et facteurs génétiques modulateurs de sévérité de la beta-thalassémie
50. Analytical evaluation of the Tosoh HLC-723 G8 automated HPLC analyzer for hemoglobin analysis in beta-thalassemia mode
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