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The EMBO Journal|June 19, 2009
MicroRNA-mediated gene silencing modulates the UV-induced DNA-damage responseJoris Pothof, Nicole S Verkaik, Wilfred van IJcken, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 5, 2002
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patientsBernard C Broughton, Agnes Cordonnier, Wim J Kleijer, et al.
Plos One|May 1, 2015
Attenuated XPC expression is not associated with impaired DNA repair in bladder cancerKishan A T Naipal, Anja Raams, Serena T Bruens, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|February 19, 2024
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disordersMarit Schwantje, Signe Mosegaard, Suzan J G Knottnerus, et al.
The Journal of Clinical Investigation|December 17, 2005
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutationMirjam van der Burg, Lieneke R van Veelen, Nicole S Verkaik, et al.
Nature Genetics|June 29, 2004
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group AGiuseppina Giglia-Mari, Frederic Coin, Jeffrey A Ranish, et al.
Journal of Lipid Research|May 25, 2024
Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometryYorrick R J Jaspers, Sven W Meyer, Mia L Pras-Raves, et al.
Nature Genetics|January 18, 2011
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtypeChantal Stoepker, Karolina Hain, Beatrice Schuster, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivoAlireza Baradaran-Heravi, Anja Raams, Joanna Lubieniecka, et al.
Human Molecular Genetics|June 16, 2009
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorderRolf J R J Janssen, Felix Distelmaier, Roel Smeets, et al.
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