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1. Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation

2. Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF

3. Ex vivo assays to predict enhanced chemosensitization by hyperthermia in urothelial cancer of the bladder.

4. Attenuated XPC expression is not associated with impaired DNA repair in bladder cancer.

5. Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethality.

6. Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.

7. A Cockayne-like phenotype resulting from a de novo variant in MORC2

8. Active DNA damage eviction by HLTF stimulates nucleotide excision repair

9. Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

10. Elongation factor ELOF1 drives transcription-coupled repair and prevents genome instability

11. Elongation factor ELOF1 drives transcription-coupled repair and prevents genome instability

12. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

13. Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

14. Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

15. Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

16. Publisher Correction: Elongation factor ELOF1 drives transcription-coupled repair and prevents genome instability

17. Trichothiodystrophy causative TFIIE beta mutation affects transcription in highly differentiated tissue

18. Ex vivo assays to predict enhanced chemosensitization by hyperthermia in urothelial cancer of the bladder

19. Heat-induced BRCA2 degradation in human tumours provides rationale for hyperthermia-PARP-inhibitor combination therapies

20. UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair

21. Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk

22. Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothliodystrophy patients: No obvious genotype-phenotype relationships

24. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria

25. Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience

26. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): Xeroderma pigmentosum without and with Cockayne syndrome

27. A new progeroid syndrome reveals that genetoxic stress suppresses the somatotroph axis

28. A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation

29. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

30. Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage

31. Attenuated XPC expression is not associated with impaired DNA repair in bladder cancer

32. Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways

33. Molecular analysis of mutations in DNA polymerase in xeroderma pigmentosum-variant patients

34. A temperature-sensitive disorder in basal transcription and DNA repair in humans

35. ERCC6 Dysfunction Presenting as Progressive Neurological Decline With Brain Hypomyelination

36. Pollitt syndrome patients carry mutation in TTDN1

37. Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

38. Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

39. Disruption of TTDA Results in Complete Nucleotide Excision Repair Deficiency and Embryonic Lethality

41. A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship

42. SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo

43. ERCC6 founder mutation identified in Finnish patients with COFS syndrome

44. Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

45. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

46. Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy

47. Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy

48. Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease

50. The DNA Double-Strand Break Repair Gene hMRE11 Is Mutated in Individuals with an Ataxia-Telangiectasia-like Disorder

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