27 results on '"Fawcett, Heather"'
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2. APE1-dependent base excision repair of DNA photodimers in human cells
3. Molecular Analysis of Mutations in DNA Polymerase η in Xeroderma Pigmentosum-Variant Patients
4. Xeroderma Pigmentosum and Trichothiodystrophy are Associated with Different Mutations in the XPD (ERCC2) Repair/Transcription Gene
5. A rare genetic disorder provides insights into mechanisms of early-onset neurodegeneration
6. XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency
7. Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect
8. Hypomorphic PCNA mutation underlies a human DNA repair disorder
9. The 'New Oxford English Dictionary' Project.
10. Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap
11. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
12. Failure Is the Foundation.
13. Molecular analysis of mutations in DNA polymerase [eta] in xeroderma pigmentosum-variant patients
14. The School Between Winter and Fairyland
15. Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features
16. A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU)
17. Genetic analysis of twenty-two patients with Cockayne syndrome
18. Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene
19. A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan
20. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome
21. Hypomorphic PCNA mutation underlies a novel human DNA repair disorder
22. Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia
23. Nabiye Cold Lake Expansion - Leveraging Technology to Create Success
24. Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD ( ERCC 2) repair/transcription gene
25. Playing detective with full text searching software.
26. Playing detective with full text searching software
27. Two individuals with featuresof both xeroderma pigmentosum and trichothiodystrophy highlightthe complexity of the clinical outcomes of mutations in the XPD gene.
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