50 results on '"Calmels, Nadège"'
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2. Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
3. Dépistage génétique néonatal : à propos du programme pilote sur l’amyotrophie spinale (DEPISMA)
4. L'amyotrophie spinale: du traitement au dépistage.
5. Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations
6. Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations
7. Growth charts in Cockayne syndrome type 1 and type 2
8. A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum
9. Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia
10. Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia
11. Renal disease in Cockayne syndrome
12. Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia
13. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation
14. Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome
15. Natural History and Phenotypic Spectrum of GAA‐FGF14 Sporadic Late‐Onset Cerebellar Ataxia (SCA27B)
16. Two DifferentPRKNCompound Heterozygous Variants Combinations in the Same Family
17. Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome
18. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
19. Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions
20. Highlighting the Dystonic Phenotype Related to GNAO1
21. Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B
22. Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions.
23. Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B
24. Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: A cytogenetic pitfall
25. Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings
26. Extension du spectre clinique de l’ataxie associée aux variations de STUB1
27. Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling
28. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterization.
29. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterization.
30. Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family.
31. Genetic Compensation in a Human Genomic Disorder
32. Additional file 6 of X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation
33. Additional file 7 of X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation
34. The in vivo mitochondrial two-step maturation of human frataxin
35. Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature
36. Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen
37. Additional file 6: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
38. Additional file 7: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
39. Additional file 3: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
40. Additional file 5: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
41. Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia.
42. Mutations in theERCC2(XPD) gene associated with severe fetal ichthyosis and dysmorphic features
43. Teaching Neuro Images : The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification
44. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
45. Deep intronic variation in splicing regulatory element of the ERCC8gene associated with severe but long-term survival Cockayne syndrome
46. Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen
47. The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia
48. Dépistage génétique néonatal : à propos du programme pilote sur l’amyotrophie spinale (DEPISMA)
49. Teaching NeuroImages: The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification.
50. Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
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