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Showing results (181-190 of 226) with videos related to

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Journal for Immunotherapy of Cancer|June 6, 2025
In-depth characterization of vaccine-induced neoantigen-specific T cells in patients with IDH1-mutant glioma undergoing personalized peptide vaccinationHenning Zelba, Borong Shao, Armin Rabsteyn, et al.
American Journal of Human Genetics|December 7, 2015
SLC39A8 Deficiency: A Disorder of Manganese Transport and GlycosylationJulien H Park, Max Hogrebe, Marianne Grüneberg, et al.
Breast (Edinburgh, Scotland)|January 24, 2025
Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiativeJan Henkel, Andreas Laner, Melanie Locher, et al.
JAMA Ophthalmology|October 15, 2020
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation TrialLaura Kuehlewein, Ditta Zobor, Sten Olof Andreasson, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 14, 2022
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD<sub>ND</sub> ): Time to Move Beyond the SkinIsabell Cordts, Demet Önder, Andreas Traschütz, et al.
Brain : a Journal of Neurology|December 14, 2018
GRIN2A-related disorders: genotype and functional consequence predict phenotypeVincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, et al.
Brain : a Journal of Neurology|April 12, 2023
Cation leak through the ATP1A3 pump causes spasticity and intellectual disabilityDaniel G Calame, Cristina Moreno Vadillo, Seth Berger, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Novel variants in the SOX11 gene: clinical description of seven new patientsBeatriz Schincariol-Manhe, Érica Campagnolo, Samira Spineli-Silva, et al.
Epilepsia|May 23, 2012
Targeted next generation sequencing as a diagnostic tool in epileptic disordersJohannes R Lemke, Erik Riesch, Tim Scheurenbrand, et al.
Annals of Neurology|December 18, 2015
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutationElena Gardella, Felicitas Becker, Rikke S Møller, et al.
Pageof 23

Showing results (181-190 of 226) with videos related to

Sort By:
Pageof 23
Journal for Immunotherapy of Cancer|June 6, 2025
In-depth characterization of vaccine-induced neoantigen-specific T cells in patients with IDH1-mutant glioma undergoing personalized peptide vaccinationHenning Zelba, Borong Shao, Armin Rabsteyn, et al.
American Journal of Human Genetics|December 7, 2015
SLC39A8 Deficiency: A Disorder of Manganese Transport and GlycosylationJulien H Park, Max Hogrebe, Marianne Grüneberg, et al.
Breast (Edinburgh, Scotland)|January 24, 2025
Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiativeJan Henkel, Andreas Laner, Melanie Locher, et al.
JAMA Ophthalmology|October 15, 2020
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation TrialLaura Kuehlewein, Ditta Zobor, Sten Olof Andreasson, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 14, 2022
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD<sub>ND</sub> ): Time to Move Beyond the SkinIsabell Cordts, Demet Önder, Andreas Traschütz, et al.
Brain : a Journal of Neurology|December 14, 2018
GRIN2A-related disorders: genotype and functional consequence predict phenotypeVincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, et al.
Brain : a Journal of Neurology|April 12, 2023
Cation leak through the ATP1A3 pump causes spasticity and intellectual disabilityDaniel G Calame, Cristina Moreno Vadillo, Seth Berger, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Novel variants in the SOX11 gene: clinical description of seven new patientsBeatriz Schincariol-Manhe, Érica Campagnolo, Samira Spineli-Silva, et al.
Epilepsia|May 23, 2012
Targeted next generation sequencing as a diagnostic tool in epileptic disordersJohannes R Lemke, Erik Riesch, Tim Scheurenbrand, et al.
Annals of Neurology|December 18, 2015
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutationElena Gardella, Felicitas Becker, Rikke S Møller, et al.
Pageof 23