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Cancer Research|April 19, 2006
A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapyChris Hunter, Raffaella Smith, Daniel P Cahill, et al.The Journal of Clinical Endocrinology and Metabolism|December 14, 2011
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiencyNils Krone, Nicole Reisch, Jan Idkowiak, et al.Nature Genetics|May 24, 2005
A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancerPhilip Stephens, Sarah Edkins, Helen Davies, et al.Cancer Research|September 6, 2005
Somatic mutations of the protein kinase gene family in human lung cancerHelen Davies, Chris Hunter, Raffaella Smith, et al.Nature|March 9, 2007
Patterns of somatic mutation in human cancer genomesChristopher Greenman, Philip Stephens, Raffaella Smith, et al.Gastroenterology|May 2, 2025
Gene-specific Detection Rate of Adenomas and Advanced Adenomas in Lynch SyndromeAriadna Sánchez, Joaquin Castillo-Iturra, Victorine H Roos, et al.Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association|November 6, 2020
Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch SyndromeAriadna Sánchez, Victorine H Roos, Matilde Navarro, et al.Science Translational Medicine|May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon productionFrédéric Ebstein, Sébastien Küry, Victoria Most, et al.Genetics in Medicine Open|January 17, 2025
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersHarriet Copeland, Karen J Low, Sarah L Wynn, et al.Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing|January 6, 2023
Worldwide survey on implantation of and outcomes for conduction system pacing with His bundle and left bundle branch area pacing leadsAlexander C Perino, Paul J Wang, Michael Lloyd, et al.Pageof 35