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Saskia Biskup

Showing results (61-70 of 226) with videos related to

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Journal of Inherited Metabolic Disease|July 31, 2016
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvementKonstanze Hörtnagel, Inge Krägeloh-Mann, Antje Bornemann, et al.
Oncotargets and Therapy|June 26, 2020
Circulating Tumor DNA Correlates with Outcome in Metastatic Melanoma Treated by BRAF and MEK Inhibitors - Results of a Prospective Biomarker StudyAndrea Forschner, Stephanie Weißgraeber, Dirk Hadaschik, et al.
Plos One|November 5, 2010
ARHGEF7 (Beta-PIX) acts as guanine nucleotide exchange factor for leucine-rich repeat kinase 2Karina Haebig, Christian Johannes Gloeckner, Marta Garcia Miralles, et al.
Frontiers in Molecular Neuroscience|October 30, 2016
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS CohortStefanie Krüger, Florian Battke, Andrea Sprecher, et al.
Neurobiology of Aging|December 5, 2013
Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron diseaseMatthis Synofzik, Christoph Born, Axel Rominger, et al.
Neurology|November 8, 2013
De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)Kathrin N Karle, Saskia Biskup, Rebecca Schüle, et al.
Frontiers in Neuroscience|January 11, 2021
Case Report: Association of a Variant of Unknown Significance in the <i>FIG4</i> Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Common Challenges in Clinical and Genetic Diagnostics of Rare Neuropsychiatric and Neurologic DisordersCaroline Gertrud Bergner, Christiane Michaela Neuhofer, Claudia Funke, et al.
Frontiers in Genetics|February 16, 2019
A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver CohortKathrin Klein, Roman Tremmel, Stefan Winter, et al.
Frontiers in Neurology|January 27, 2023
Case report: <i>KPTN</i> gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsySvea Horn, Magdalena Danyel, Nina Erdmann, et al.
Journal of Cancer Research and Clinical Oncology|February 7, 2023
NOTCH3 missense mutations as predictor of long-term response to gemcitabine in a patient with epithelioid hemangioendotheliomaMoritz Schmidt, Sven Mattern, Stephan Singer, et al.
Pageof 23

Showing results (61-70 of 226) with videos related to

Sort By:
Pageof 23
Journal of Inherited Metabolic Disease|July 31, 2016
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvementKonstanze Hörtnagel, Inge Krägeloh-Mann, Antje Bornemann, et al.
Oncotargets and Therapy|June 26, 2020
Circulating Tumor DNA Correlates with Outcome in Metastatic Melanoma Treated by BRAF and MEK Inhibitors - Results of a Prospective Biomarker StudyAndrea Forschner, Stephanie Weißgraeber, Dirk Hadaschik, et al.
Plos One|November 5, 2010
ARHGEF7 (Beta-PIX) acts as guanine nucleotide exchange factor for leucine-rich repeat kinase 2Karina Haebig, Christian Johannes Gloeckner, Marta Garcia Miralles, et al.
Frontiers in Molecular Neuroscience|October 30, 2016
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS CohortStefanie Krüger, Florian Battke, Andrea Sprecher, et al.
Neurobiology of Aging|December 5, 2013
Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron diseaseMatthis Synofzik, Christoph Born, Axel Rominger, et al.
Neurology|November 8, 2013
De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)Kathrin N Karle, Saskia Biskup, Rebecca Schüle, et al.
Frontiers in Neuroscience|January 11, 2021
Case Report: Association of a Variant of Unknown Significance in the <i>FIG4</i> Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Common Challenges in Clinical and Genetic Diagnostics of Rare Neuropsychiatric and Neurologic DisordersCaroline Gertrud Bergner, Christiane Michaela Neuhofer, Claudia Funke, et al.
Frontiers in Genetics|February 16, 2019
A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver CohortKathrin Klein, Roman Tremmel, Stefan Winter, et al.
Frontiers in Neurology|January 27, 2023
Case report: <i>KPTN</i> gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsySvea Horn, Magdalena Danyel, Nina Erdmann, et al.
Journal of Cancer Research and Clinical Oncology|February 7, 2023
NOTCH3 missense mutations as predictor of long-term response to gemcitabine in a patient with epithelioid hemangioendotheliomaMoritz Schmidt, Sven Mattern, Stephan Singer, et al.
Pageof 23