46 results on '"Spector, Elaine B."'
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2. Metabolic Profiling of Total Homocysteine and Related Compounds in Hyperhomocysteinemia: Utility and Limitations in Diagnosing the Cause of Puzzling Thrombophilia in a Family
3. Fragile X—A Family of Disorders: Changing Phenotype and Molecular Genetics
4. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
5. Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly
6. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
7. Abstract 12946: Identification of a LMNA Synonymous Variant Associated With Severe Dilated Cardiomyopathy
8. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia
9. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics
10. Fragile X—A Family of Disorders: Changing Phenotype and Molecular Genetics
11. Receptor expression, cytogenetic, and molecular analysis of six continuous human glioma cell lines
12. An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report.
13. Familial Acanthosis Nigricans Due to K650T FGFR3 Mutation
14. Characterization of a continuous human glioma cell line DBTRG-05MG: growth kinetics, karyotype, receptor expression, and tumor suppressor gene analyses
15. Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial
16. Venous thromboembolism laboratory testing (factor V Leiden andfactor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
17. Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene
18. Purine Synthesis and Excretion in Mutants of the WI-L2 Human Lymphoblastoid Line Deficient in Adenosine Kinase (AK) and Adenine Phosphoribosyltransferase (APRT)
19. Regulation of expression of genes for enzymes of the mammalian urea cycle in permanent cell-culture lines of hepatic and non-hepatic origin
20. Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348CysFGFR3mutation
21. Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype
22. Mutations in the accessory subunitNDUFB10result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly
23. Cloning of rat liver arginase cDNA and elucidation of regulation of arginase gene expression in H4 rat hepatoma cells
24. Citrulline metabolism in normal and citrullinemic human lymphocyte lines
25. Argininosuccinate synthetase activity in cultured human lymphocytes
26. Purine reutilization and synthesis de novo in long-term human lymphocyte cell lines deficient in adenine phosphoribosyltransferase activity
27. Differential expression of multiple forms of arginase in cultured cells
28. Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency
29. Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines
30. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
31. Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples
32. Technical standards and guidelines: Venous thromboembolism (Factor V Leiden and prothrombin 20210G>A testing): A disease-specific supplement to the standards and guidelines for clinical genetics laboratories
33. Meeting Announcement
34. College News
35. Technical Standards and Guidelines for Huntington Disease Testing
36. Assignment of Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase (ETF-QO) to Human Chromosome 4q33 by Fluorescence in Situ Hybridization and Somatic Cell Hybridization
37. Subcellular location and differential antibody specificity of arginase in tissue culture and whole animals
38. Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency.
39. Dystrophin protein and rflp analyis for fetal diagnosis and carrier confirmation of duchenne muscular dystrophy
40. Reversion in expression of hypoxanthine-guanine phosphoribosyltransferase in 6-thioguanine resistant neuroblastoma: Evidence for reduced enzyme levels associated with unaltered catalytic activity.
41. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population
42. Assignment of Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase (ETF-QO) to Human Chromosome 4q33 by Fluorescence in SituHybridization and Somatic Cell Hybridization
43. PROPERTIES OF HUMAN ADULT AND FETAL RED BLOOD CELL ARGINASE: A POSSIBLE DIAGNOSTIC TEST FOR ARGINASE DEFICIENCY
44. Microinjection of arginase into enzyme-deficient cells with the isolated glycoproteins of sendai virus as fusogen
45. Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
46. Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories.
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