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International Journal of Cancer|December 23, 2014
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomasIsabel Spier, Stefanie Holzapfel, Janine Altmüller, et al.Plos One|May 17, 2011
Benchmarking of mutation diagnostics in clinical lung cancer specimensSilvia Querings, Janine Altmüller, Sascha Ansén, et al.Nature Genetics|November 16, 2021
Chromothripsis followed by circular recombination drives oncogene amplification in human cancerCarolina Rosswog, Christoph Bartenhagen, Anne Welte, et al.Epilepsia|July 5, 2014
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsyEva M Reinthaler, Dennis Lal, Wiktor Jurkowski, et al.Familial Cancer|January 19, 2016
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposisIsabel Spier, Martin Kerick, Dmitriy Drichel, et al.Kidney International Reports|February 23, 2023
Modeling of <i>ACTN4</i>-Based Podocytopathy Using <i>Drosophila</i> NephrocytesJohanna Odenthal, Sebastian Dittrich, Vivian Ludwig, et al.Blood|May 27, 2016
Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapyCarmen Diana Herling, Marion Klaumünzer, Cristiano Krings Rocha, et al.Iscience|July 24, 2023
Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxationMengjie Zhu, Fabian Metzen, Mark Hopkinson, et al.American Journal of Human Genetics|May 10, 2011
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing lossAntje K Huebner, Marta Gandia, Peter Frommolt, et al.Annals of Neurology|July 13, 2019
SSBP1 mutations in dominant optic atrophy with variable retinal degenerationNeringa Jurkute, Costin Leu, Hans-Martin Pogoda, et al.Pageof 33