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Genome Biology|June 25, 2014
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpointsJulia Vogt, Kathrin Bengesser, Kathleen B M Claes, et al.Frontiers in Immunology|July 18, 2018
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair DeficiencyVictoria K Tesch, Hanna IJspeert, Andrea Raicht, et al.Journal of Medical Genetics|September 9, 2019
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriersMaribel González-Acosta, Fátima Marín, Benjamin Puliafito, et al.Human Mutation|February 12, 2019
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytesRichard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, et al.Gastroenterology|December 31, 2022
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair DeficiencyRichard Gallon, Rachel Phelps, Christine Hayes, et al.Neuro-Oncology Practice|March 9, 2026
Pediatric high-grade gliomas in patients with neurofibromatosis type 1-A collaborative cohort study from the SIOPE HGG/DIPG working groupMichael Karremann, Tabea Gerdes, Gerrit H Gielen, et al.Pageof 4