289 results on '"Ajmar F"'
Search Results
2. A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease
3. No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients
4. Predictive testing for Huntington’s disease: ten years’ experience in two Italian centres
5. An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP
6. Von Hippel-Lindau (VHL) Gene Analysis in Italian Families with VHL Disease
7. Clinical and genetic study of essential tremor in the Italian population
8. Forensic Applications of Molecular Genetic Analysis: An Italian Collaborative Study on Paternity Testing by the Determination of Variable Number of Tandem Repeat DNA Polymorphisms
9. A novel myelin protein zero mutation associated with Charcot-Marie-Tooth type II disease
10. The N-Methyl-D-Aspartate receptor subunit 2B gene (GRIN2B) is not linked to Bipolar Disorder: evidence for specificity of the role of GRIN1
11. N-Methyl-D-Aspartate Recpetor(GRIN1, GRIN2B)in schizophrenia: TDT and case-controls analyses
12. The role for NMDA receptors in the pathogenesis of schizophrenia: no evidence that the NMDAR2B gene is associated with susceptibility to schizophrenia
13. Erratum
14. A Novel mutat of melin protein zero associated with an axonal form of Charcot-Marie.Tooth disease
15. An electrophoretic method for the detection of human red cell acetylcholinesterase
16. Electrophoretic demonstration and initial characterization of human red cell NAD(P)+ase
17. Partial deficiency of red cell 6-phosphogluconate dehydrogenase: A family study
18. No evidence of association between CAG expansions and essential tremor in a large cohort of italian patients
19. Coincidence between fragile site expression and interstitial deletion of chromosome 11 in a case of myelofibrosis
20. Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor. Parkinsonism Relat Disord
21. Variations in the NMDA receptor subunit 2B gene (GRIN2B) and bipolar disorder: A case-control study
22. A Capillary Tube, Nile Blue Methemoglobin Reduction Test for Glucose-6-Phosphate Dehydrogenase Deficiency*
23. Effect of platelet membranes on the electrophoretic pattern of 6-phosphogluconic dehydrogenase from platelet lysates
24. Essential tremor is not associated with alpha-synuclein gene haplotypes
25. Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients
26. The role for NMDA receptors in the pathogenesis of schizophrenia: no evidence that the NMDAR2B gene is associated with susceptibility to schizophrenia
27. Clinical and genetic study of essential tremor in the Italianpopulation
28. Genetic testing of Huntington disease
29. Characterization of Ligurian Melanoma families and risk of occurence of other neoplasia
30. Predictive testing for Huntington's disease: ten years' experience in two Italian centres
31. Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women
32. Italian melanoma prone families: analysis of CDKN2/p16 mutations and linkage to 9p21
33. Identification of a 4 bp deletion (1560del4) in <tex>P_{0}$</tex> gene in a family with severe Charcot-Marie-Tooth disease
34. 'Screening of Neurofibromatosis Type I gene: identification of a large deletion and of an intronic variant'
35. Composition of Human Granulocytic Colonies as a Function of the Purification Stage of CSF
36. Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families
37. Linkage of polymorphic markers of chromosome 5 to familial adenomatous polyposis (FAP) in Italian families
38. SPECIFIC ENZYMATIC AMPLIFICATION OF A DNA REGION CLOSELY ASSOCIATED WITHHUNTINGTON CHOREA
39. Amplificazione enzimatica specifica di una regione di DNA strettamente associata alla Corea di Huntington
40. Screening for mutations in the lipopolysaccharide‐induced tumor necrosis factor‐alpha factor (litaf) gene in italian patients with charcot‐marie‐tooth disease.
41. Glutamate receptor gene (GRIN1, GRIN2B) in schizophrenia: TDT and case-controls analyses
42. Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 65
43. A Family With Autosomal Dominant Mutilating Neuropathy Not Linked To Either Charcot‐Marie‐Tooth Disease Type 2B (CMT2B) or Hereditary Sensory Neuropathy Type I (HSN I) LOCI
44. THE CONNEXIN 32 NERVE-SPECIFIC PROMOTER IS DIRECTLY ACTIVATED BY Egr2/Krox20 IN HeLa CELLS
45. A NOVEL MYELIN PROTEIN ZERO MUTATION ASSOCIATED WITH CHARCOT-MARIE-TOOTH TYPE II DISEASE
46. Myelin Protein Zero Mutations In Inherited Neuropathies: The Recurrent Thr124Met IS Associated With A Distinct Phenotype
47. The D355V Mutation Decreases EGR2 Binding To An Element Within The CX32 Promoter
48. Novel MPZ Mutation In A Sporadic CMT Patient
49. Absence of haemolytic effects of L-DOPA on transfused G6PD-deficient erythrocytes
50. A FAMILY WITH AUTOSOMAL DOMINANT MUTILATING NEUROPATHY NOT LINKED TO EITHER 3q13‐q22 OR 9q22 LOCI
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