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Your search keyword '"Fawcett, Heather"' showing total 27 results

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27 results on '"Fawcett, Heather"'

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1. Insights from multi-omic modeling of neurodegeneration in xeroderma pigmentosum using an induced pluripotent stem cell system

5. A rare genetic disorder provides insights into mechanisms of early-onset neurodegeneration

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.

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

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

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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