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Saskia Biskup

Showing results (71-80 of 226) with videos related to

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American Journal of Ophthalmology|June 23, 2024
Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal DystrophyJan-Philipp Bodenbender, Leon Bethge, Katarina Stingl, et al.
Human Genetics|December 2, 2019
Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expressionRoman Tremmel, Kathrin Klein, Florian Battke, et al.
Bioimpacts : BI|July 11, 2023
Homozygous mutation in <i>CSF1R</i> causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)Hossein Daghagh, Haniyeh Rahbar Kafshboran, Yousef Daneshmandpour, et al.
Genes|July 27, 2022
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German CohortFadi Nasser, Susanne Kohl, Anne Kurtenbach, et al.
The Oncologist|March 30, 2026
Minimal Residual Disease Assessment Through ctDNA Facilitates Tailored Immunotherapy in MSI-High, NTRK1-Fusion Pancreatic AdenocarcinomaSarah Rohlfing, Dilyana Vladimirova, Stephanie Berger, et al.
Annals of Neurology|October 29, 2005
Common variants of LRRK2 are not associated with sporadic Parkinson's diseaseSaskia Biskup, Jakob C Mueller, Manu Sharma, et al.
Human Mutation|November 11, 2017
A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motifAndrea S Bock, Sven Günther, Julia Mohr, et al.
Journal of Neurochemistry|November 15, 2006
Expression and localization of Parkinson's disease-associated leucine-rich repeat kinase 2 in the mouse brainShinji Higashi, Darren J Moore, Rebecca E Colebrooke, et al.
Journal of Immunology (Baltimore, Md. : 1950)|December 10, 2020
A Highly Specific Assay for the Detection of SARS-CoV-2-Reactive CD4<sup>+</sup> and CD8<sup>+</sup> T Cells in COVID-19 PatientsHenning Zelba, David Worbs, Johannes Harter, et al.
Mitochondrion|October 11, 2016
Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNAClaudia B Catarino, Uwe Ahting, Mirjana Gusic, et al.
Pageof 23

Showing results (71-80 of 226) with videos related to

Sort By:
Pageof 23
American Journal of Ophthalmology|June 23, 2024
Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal DystrophyJan-Philipp Bodenbender, Leon Bethge, Katarina Stingl, et al.
Human Genetics|December 2, 2019
Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expressionRoman Tremmel, Kathrin Klein, Florian Battke, et al.
Bioimpacts : BI|July 11, 2023
Homozygous mutation in <i>CSF1R</i> causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)Hossein Daghagh, Haniyeh Rahbar Kafshboran, Yousef Daneshmandpour, et al.
Genes|July 27, 2022
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German CohortFadi Nasser, Susanne Kohl, Anne Kurtenbach, et al.
The Oncologist|March 30, 2026
Minimal Residual Disease Assessment Through ctDNA Facilitates Tailored Immunotherapy in MSI-High, NTRK1-Fusion Pancreatic AdenocarcinomaSarah Rohlfing, Dilyana Vladimirova, Stephanie Berger, et al.
Annals of Neurology|October 29, 2005
Common variants of LRRK2 are not associated with sporadic Parkinson's diseaseSaskia Biskup, Jakob C Mueller, Manu Sharma, et al.
Human Mutation|November 11, 2017
A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motifAndrea S Bock, Sven Günther, Julia Mohr, et al.
Journal of Neurochemistry|November 15, 2006
Expression and localization of Parkinson's disease-associated leucine-rich repeat kinase 2 in the mouse brainShinji Higashi, Darren J Moore, Rebecca E Colebrooke, et al.
Journal of Immunology (Baltimore, Md. : 1950)|December 10, 2020
A Highly Specific Assay for the Detection of SARS-CoV-2-Reactive CD4<sup>+</sup> and CD8<sup>+</sup> T Cells in COVID-19 PatientsHenning Zelba, David Worbs, Johannes Harter, et al.
Mitochondrion|October 11, 2016
Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNAClaudia B Catarino, Uwe Ahting, Mirjana Gusic, et al.
Pageof 23