Hasil Pencarian - Saskia Biskup

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  1. 1
    New Nonsense Variant c.2983G>T; p.Glu995* in the Gene Causes Progressive Autosomal Dominant Ataxia

    New Nonsense Variant c.2983G>T; p.Glu995* in the Gene Causes Progressive Autosomal Dominant Ataxia oleh Yannic Saathoff, Saskia Biskup, Claudia Funke, Christian Roth

    Diterbitkan 2021-01-01
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  2. 2
    Case Report: Targeting of individual somatic tumor mutations by multipeptide vaccination tailored for HLA class I and II presentation induces strong CD4 and CD8 T-cell responses in a patient with metastatic castration sensitive prostate cancer

    Case Report: Targeting of individual somatic tumor mutations by multipeptide vaccination tailored for HLA class I and II presentation induces strong CD4 and CD8 T-cell responses in... oleh Henning Zelba, Armin Rabsteyn, Oliver Bartsch, Christina Kyzirakos, Simone Kayser, Marcel Seibold, Johannes Harter, Pauline Latzer, Dirk Hadaschik, Florian Battke, Alexander Golf, Matthew B. Rettig, Matthew B. Rettig, Saskia Biskup, Saskia Biskup, Saskia Biskup

    Diterbitkan 2023-10-01
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  3. 3
    The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report

    The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in... oleh Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Jerome Juengling, Kerstin Huhn, Saskia Biskup, Saskia Biskup, Bartłomiej Bancerz, Jarosław Walkowiak

    Diterbitkan 2023-06-01
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  4. 4
    Neurodevelopmental disorder with dystonia due to SOX6 mutations

    Neurodevelopmental disorder with dystonia due to SOX6 mutations oleh Susanne A. Schneider, Christine Mueller, Saskia Biskup, Urban M. Fietzek, Andreas Sebastian Schroeder

    Diterbitkan 2022-12-01
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  5. 5
    Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort

    Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort oleh Stefanie Krüger, Florian Battke, Andrea Sprecher, Marita Munz, Marita Munz, Matthis Synofzik, Matthis Synofzik, Ludger Schöls, Ludger Schöls, Thomas Gasser, Thomas Gasser, Torsten Grehl, Johannes Prudlo, Johannes Prudlo, Saskia Biskup, Saskia Biskup

    Diterbitkan 2016-10-01
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  6. 6
    Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

    Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome oleh Friedrich Stock, Marcel Hanisch, Sarah Lechner, Saskia Biskup, Axel Bohring, Johannes Zschocke, Ines Kapferer-Seebacher

    Diterbitkan 2021-01-01
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  7. 7
    Network-targeting combination therapy of leptomeningeal glioblastoma using multiple synthetic lethal strategies: a case report

    Network-targeting combination therapy of leptomeningeal glioblastoma using multiple synthetic lethal strategies: a case report oleh Michael P. Castro, Michael P. Castro, Michael P. Castro, Bence Sipos, Saskia Biskup, Nina Kahn

    Diterbitkan 2023-10-01
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  8. 8
    Exome Enrichment and SOLiD Sequencing of Formalin Fixed Paraffin Embedded (FFPE) Prostate Cancer Tissue

    Exome Enrichment and SOLiD Sequencing of Formalin Fixed Paraffin Embedded (FFPE) Prostate Cancer Tissue oleh Saskia Biskup, Detlef Boehm, Diana Boehm, Falko Fend, Martin Braun, Mario Deng, Roopika Menon, Sven Perner

    Diterbitkan 2012-07-01
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  9. 9
    Molecular tumor analysis and liquid biopsy: a feasibility investigation analyzing circulating tumor DNA in patients with central nervous system lymphomas

    Molecular tumor analysis and liquid biopsy: a feasibility investigation analyzing circulating tumor DNA in patients with central nervous system lymphomas oleh Anne-Katrin Hickmann, Maximilian Frick, Dirk Hadaschik, Florian Battke, Markus Bittl, Oliver Ganslandt, Saskia Biskup, Dennis Döcker

    Diterbitkan 2019-03-01
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  10. 10
    Novel cases of amyotrophic lateral sclerosis after treatment of cerebral arteriovenous malformations

    Novel cases of amyotrophic lateral sclerosis after treatment of cerebral arteriovenous malformations oleh Michael Linnebank, Cameron G. McDougall, Stefanie Krueger, Saskia Biskup, Manuela Neumann, Michael Weller, Antonios Valavanis, Johannes Prudlo

    Diterbitkan 2016-11-01
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  11. 11
    A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of <em>WDR45</em>

    A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of <em>WDR45</em> oleh Andreas Hermann, Hagen H. Kitzler, Tobias Pollack, Saskia Biskup, Stefanie Krüger, Claudia Funke, Caterina Terille, Tobias B. Haack

    Diterbitkan 2017-08-01
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  12. 12
    ARHGEF7 (Beta-PIX) acts as guanine nucleotide exchange factor for leucine-rich repeat kinase 2.

    ARHGEF7 (Beta-PIX) acts as guanine nucleotide exchange factor for leucine-rich repeat kinase 2. oleh Karina Haebig, Christian Johannes Gloeckner, Marta Garcia Miralles, Frank Gillardon, Claudia Schulte, Olaf Riess, Marius Ueffing, Saskia Biskup, Michael Bonin

    Diterbitkan 2010-10-01
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  13. 13
    Homozygous mutation in CSF1R causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)

    Homozygous mutation in CSF1R causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) oleh Hossein Daghagh, Haniyeh Rahbar Kafshboran, Yousef Daneshmandpour, Maryam Nasiri Aghdam, Shahrzad Talebian, Jafar Nouri Nojadeh, Hamid Hamzeiy, Saskia Biskup, Ebrahim Sakhinia

    Diterbitkan 2023-05-01
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  14. 14
    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 Cohort

    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 Cohort oleh Kathrin Klein, Kathrin Klein, Roman Tremmel, Roman Tremmel, Stefan Winter, Stefan Winter, Sarah Fehr, Sarah Fehr, Florian Battke, Florian Battke, Tim Scheurenbrand, Tim Scheurenbrand, Elke Schaeffeler, Elke Schaeffeler, Saskia Biskup, Saskia Biskup, Matthias Schwab, Matthias Schwab, Matthias Schwab, Matthias Schwab, Ulrich M. Zanger, Ulrich M. Zanger

    Diterbitkan 2019-01-01
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  15. 15
    Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

    Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy oleh Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B. Haack, Saskia Biskup, Susanne Kohl, Laura Kühlewein, Daniele Dell’Orco, Nicole Weisschuh

    Diterbitkan 2023-01-01
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  16. 16
    Case Report: Association of a Variant of Unknown Significance in the FIG4 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 Disorders

    Case Report: Association of a Variant of Unknown Significance in the FIG4 Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Commo... oleh Caroline Gertrud Bergner, Caroline Gertrud Bergner, Christiane Michaela Neuhofer, Claudia Funke, Saskia Biskup, Philipp von Gottberg, Claudia Bartels, Jan Christoph Koch, Katrin Radenbach

    Diterbitkan 2020-12-01
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  17. 17
    Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report

    Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived... oleh Katja Sonntag, Hisayoshi Hashimoto, Matthias Eyrich, Moritz Menzel, Max Schubach, Dennis Döcker, Florian Battke, Carolina Courage, Helmut Lambertz, Rupert Handgretinger, Saskia Biskup, Karin Schilbach

    Diterbitkan 2018-02-01
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  18. 18
    No dopamine cell loss or changes in cytoskeleton function in transgenic mice expressing physiological levels of wild type or G2019S mutant LRRK2 and in human fibroblasts.

    No dopamine cell loss or changes in cytoskeleton function in transgenic mice expressing physiological levels of wild type or G2019S mutant LRRK2 and in human fibroblasts. oleh Marta Garcia-Miralles, Janaky Coomaraswamy, Karina Häbig, Martin C Herzig, Natalja Funk, Frank Gillardon, Martina Maisel, Mathias Jucker, Thomas Gasser, Dagmar Galter, Saskia Biskup

    Diterbitkan 2015-01-01
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  19. 19
    Adjuvant Treatment for Breast Cancer Patients Using Individualized Neoantigen Peptide Vaccination—A Retrospective Observation

    Adjuvant Treatment for Breast Cancer Patients Using Individualized Neoantigen Peptide Vaccination—A Retrospective Observation oleh Henning Zelba, Alex McQueeney, Armin Rabsteyn, Oliver Bartsch, Christina Kyzirakos, Simone Kayser, Johannes Harter, Pauline Latzer, Dirk Hadaschik, Florian Battke, Andreas D. Hartkopf, Saskia Biskup

    Diterbitkan 2022-11-01
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  20. 20
    Use of plasma ctDNA as a potential biomarker for longitudinal monitoring of a patient with metastatic high-risk upper tract urothelial carcinoma receiving pembrolizumab and personalized neoepitope-derived multipeptide vaccinations: a case report

    Use of plasma ctDNA as a potential biomarker for longitudinal monitoring of a patient with metastatic high-risk upper tract urothelial carcinoma receiving pembrolizumab and persona... oleh Arnulf Stenzl, Florian Battke, Martin Schulze, Maria Kopp, Maximilian Frick, Saskia Biskup, Carolin Blumendeller, Julius Boehme, Antje Rinckleb, Christina Kyzirakos, Simone Kayser, Sabine Kelkenberg, Natalia Pieper, Oliver Bartsch, Dirk Hadaschick

    Diterbitkan 2021-01-01
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