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Saskia Biskup

Showing results (151-160 of 226) with videos related to

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The Journal of Pathology|October 12, 2013
Somatic copy number alterations by whole-exome sequencing implicates YWHAZ and PTK2 in castration-resistant prostate cancerRoopika Menon, Mario Deng, Kerstin Rüenauver, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 7, 2019
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsyHenrike O Heyne, Mykyta Artomov, Florian Battke, et al.
Cancers|December 23, 2020
Clinical and Genetic Tumor Characteristics of Responding and Non-Responding Patients to PD-1 Inhibition in Hepatocellular CarcinomaStephan Spahn, Daniel Roessler, Radu Pompilia, et al.
International Journal of Molecular Sciences|March 6, 2021
Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis PigmentosaLaura Kuehlewein, Ditta Zobor, Katarina Stingl, et al.
Human Mutation|August 7, 2018
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsiaNicole Weisschuh, Katarina Stingl, Isabelle Audo, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|January 22, 2020
ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment responseMarius Gasser, Ponghatai Boonsimma, Wiracha Netbaramee, et al.
NAR Genomics and Bioinformatics|January 19, 2026
SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genomeLinnaeus Bundalian, Martina Schmidt Strnadová, Felix Garten, et al.
Nature Genetics|November 9, 2010
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiencyTobias B Haack, Katharina Danhauser, Birgit Haberberger, et al.
Neurogenetics|September 5, 2009
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's diseaseAnne S Soehn, Thomas Franck, Saskia Biskup, et al.
American Journal of Human Genetics|January 8, 2005
Linkage disequilibrium patterns and tagSNP transferability among European populationsJakob C Mueller, Elin Lõhmussaar, Reedik Mägi, et al.
Pageof 23

Showing results (151-160 of 226) with videos related to

Sort By:
Pageof 23
The Journal of Pathology|October 12, 2013
Somatic copy number alterations by whole-exome sequencing implicates YWHAZ and PTK2 in castration-resistant prostate cancerRoopika Menon, Mario Deng, Kerstin Rüenauver, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 7, 2019
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsyHenrike O Heyne, Mykyta Artomov, Florian Battke, et al.
Cancers|December 23, 2020
Clinical and Genetic Tumor Characteristics of Responding and Non-Responding Patients to PD-1 Inhibition in Hepatocellular CarcinomaStephan Spahn, Daniel Roessler, Radu Pompilia, et al.
International Journal of Molecular Sciences|March 6, 2021
Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis PigmentosaLaura Kuehlewein, Ditta Zobor, Katarina Stingl, et al.
Human Mutation|August 7, 2018
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsiaNicole Weisschuh, Katarina Stingl, Isabelle Audo, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|January 22, 2020
ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment responseMarius Gasser, Ponghatai Boonsimma, Wiracha Netbaramee, et al.
NAR Genomics and Bioinformatics|January 19, 2026
SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genomeLinnaeus Bundalian, Martina Schmidt Strnadová, Felix Garten, et al.
Nature Genetics|November 9, 2010
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiencyTobias B Haack, Katharina Danhauser, Birgit Haberberger, et al.
Neurogenetics|September 5, 2009
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's diseaseAnne S Soehn, Thomas Franck, Saskia Biskup, et al.
American Journal of Human Genetics|January 8, 2005
Linkage disequilibrium patterns and tagSNP transferability among European populationsJakob C Mueller, Elin Lõhmussaar, Reedik Mägi, et al.
Pageof 23