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Proceedings of the National Academy of Sciences of the United States of America|June 22, 2021
Reduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophyAnita Lombardi, Lavinia Arseni, Roberta Carriero, et al.Acta Bio-Medica : Atenei Parmensis|September 14, 2020
#StayHomeStayFit: UNIMI's approach to online healthy lifestyle promotion during the COVID-19 pandemicDaniela Lucini, Cecilia Eugenia Gandolfi, Clara Antonucci, et al.Human Mutation|September 16, 2006
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationshipsElena Botta, Judith Offman, Tiziana Nardo, et al.The Journal of Investigative Dermatology|June 29, 2005
Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical featuresMitsuo Fujimoto, Suzanne N Leech, Therina Theron, et al.Molecular and Cellular Biology|September 2, 2005
Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndromeTherina Theron, Maria I Fousteri, Marcel Volker, et al.Journal of Medical Genetics|March 25, 2018
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndromeNadege Calmels, Elena Botta, Nan Jia, et al.Clinical Genetics|March 18, 2021
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 geneEmanuele Agolini, Elena Botta, Mariachiara Lodi, 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.American Journal of Human Genetics|March 22, 2016
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyChristiane Kuschal, Elena Botta, Donata Orioli, et al.Journal of Medical Genetics|January 24, 2015
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113AMark A Corbett, Tracy Dudding-Byth, Patricia A Crock, et al.Pageof 3