46 results on '"Nelis, Eva"'
Search Results
2. Evaluation of usefulness of further Y-STR analysis in sexual assault cases on PSA positive samples resulting in female autosomal STR profiling
3. Relative Contribution of Mutations in Genes for Autosomal Dominant Distal Hereditary Motor Neuropathies: A Genotype-Phenotype Correlation Study
4. Genotype–phenotype analysis in patients with giant axonal neuropathy (GAN)
5. Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV
6. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
7. Simultaneous Mutation and Copy Number Variation (CNV) Detection by Multiplex PCR-Based GS-FLX Sequencing
8. Hereditary Spastic Paraplegia 3A Associated With Axonal Neuropathy
9. MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2
10. Molecular Diagnostics of Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies
11. Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene
12. Clinicopathological and genetic study of early-onset demyelinating neuropathy
13. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy
14. Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3
15. Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease
16. Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
17. A Novel Type of Hereditary Motor and Sensory Neuropathy Characterized by a Mild Phenotype
18. Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP
19. A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot–Marie–Tooth disease with irregularly folded myelin sheaths
20. Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent
21. Tracing Myelin Protein Zero (P0) in vivo by construction of P0-GFP fusion proteins
22. Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.
23. Tracing Myelin Protein Zero (P0) in vivo by construction of P0-GFP fusion proteins.
24. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
25. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 ( GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
26. Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.
27. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
28. Mutation analysis of the connexin 32 (Cx32) gene in charcot-marie-tooth neuropathy type 1: Identification of five new mutations.
29. A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients.
30. Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
31. Distal Hereditary Motor Neuropathy Type II (Distal HMN II): Mapping of a Locus to Chromosome 12q24.
32. Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
33. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
34. PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?
35. Identification of a de novo insertional mutation in Po in a patient with a Déjérine - Sottas syndrome (DSS) phenotype.
36. Identification of a 4 bp deletion (1560de14) in Po gene in a family with severe charcot-Marie-Tooth disease.
37. An adhesion test system based on Schneider cells to determine genotype–phenotype correlations for mutated P0 proteins
38. 3rd Workshop of the European CMT consortium: 54th ENMC International Workshop on Genotype/Phenotype Correlations in Charcot-Marie-Tooth Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies28–30 November 1997, Naarden, The Netherlands
39. Clinical Phenotypes of Different MPZ (P 0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination
40. Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding
41. Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome
42. Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree
43. Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion Patients
44. Assay of transfection rate in insect cells on a single cell level
45. Peripheral neuropathy and 46XY gonadal dysgenesis: A heterogeneous entity
46. Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10.
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