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American Journal of Human Genetics|April 30, 2013
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemiaKazuya Kashiyama, Yuka Nakazawa, Daniela T Pilz, et al.Proceedings of the National Academy of Sciences of the United States of America|February 18, 2016
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defectHiva Fassihi, Mieran Sethi, Heather Fawcett, et al.Blood|May 9, 2019
Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whitesJeffrey I Cohen, Irini Manoli, Kennichi Dowdell, et al.Cell Reports|May 28, 2024
Insights from multi-omic modeling of neurodegeneration in xeroderma pigmentosum using an induced pluripotent stem cell systemCherif Badja, Sophie Momen, Gene Ching Chiek Koh, et al.Cell Reports|December 3, 2014
Transcription restores DNA repair to heterochromatin, determining regional mutation rates in cancer genomesChristina L Zheng, Nicholas J Wang, Jongsuk Chung, et al.The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.Pageof 4