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Saskia Biskup

Showing results (111-120 of 226) with videos related to

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Vaccines|September 27, 2025
Case Report: A Multi-Peptide Vaccine Targeting Individual Somatic Mutations Induces Tumor Infiltration of Neoantigen-Specific T Cells in a Patient with Metastatic Colorectal CancerArmin Rabsteyn, Henning Zelba, Borong Shao, et al.
Translational Vision Science & Technology|December 28, 2019
Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by <i>CRB1</i> MutationsKrunoslav T Stingl, Laura Kuehlewein, Nicole Weisschuh, et al.
Molecular Vision|May 18, 2018
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophyAnna Wawrocka, Anna Skorczyk-Werner, Katarzyna Wicher, et al.
BMC Cancer|October 27, 2015
Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutationsJan Peveling-Oberhag, Franziska Wolters, Claudia Döring, et al.
Human Molecular Genetics|January 4, 2007
Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicityAndrew B West, Darren J Moore, Catherine Choi, et al.
Ear and Hearing|November 10, 2021
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year StudyAnke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, et al.
Annals of Neurology|May 10, 2018
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathyPaolo Ambrosino, Maria Virginia Soldovieri, Thomas Bast, et al.
Human Molecular Genetics|February 24, 2012
Neurodegenerative phenotypes in an A53T α-synuclein transgenic mouse model are independent of LRRK2João Paulo L Daher, Olga Pletnikova, Saskia Biskup, et al.
Human Mutation|June 22, 2021
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorderFrancesca Semino, Julian Schröter, Marjolein H Willemsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjectsCornelis Blauwendraat, Carlo Wilke, Javier Simón-Sánchez, et al.
Pageof 23

Showing results (111-120 of 226) with videos related to

Sort By:
Pageof 23
Vaccines|September 27, 2025
Case Report: A Multi-Peptide Vaccine Targeting Individual Somatic Mutations Induces Tumor Infiltration of Neoantigen-Specific T Cells in a Patient with Metastatic Colorectal CancerArmin Rabsteyn, Henning Zelba, Borong Shao, et al.
Translational Vision Science & Technology|December 28, 2019
Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by <i>CRB1</i> MutationsKrunoslav T Stingl, Laura Kuehlewein, Nicole Weisschuh, et al.
Molecular Vision|May 18, 2018
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophyAnna Wawrocka, Anna Skorczyk-Werner, Katarzyna Wicher, et al.
BMC Cancer|October 27, 2015
Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutationsJan Peveling-Oberhag, Franziska Wolters, Claudia Döring, et al.
Human Molecular Genetics|January 4, 2007
Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicityAndrew B West, Darren J Moore, Catherine Choi, et al.
Ear and Hearing|November 10, 2021
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year StudyAnke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, et al.
Annals of Neurology|May 10, 2018
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathyPaolo Ambrosino, Maria Virginia Soldovieri, Thomas Bast, et al.
Human Molecular Genetics|February 24, 2012
Neurodegenerative phenotypes in an A53T α-synuclein transgenic mouse model are independent of LRRK2João Paulo L Daher, Olga Pletnikova, Saskia Biskup, et al.
Human Mutation|June 22, 2021
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorderFrancesca Semino, Julian Schröter, Marjolein H Willemsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjectsCornelis Blauwendraat, Carlo Wilke, Javier Simón-Sánchez, et al.
Pageof 23