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Saskia Biskup

Showing results (121-130 of 226) with videos related to

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Brain Pathology (Zurich, Switzerland)|May 19, 2020
Differential diagnosis of vacuolar myopathies in the NGS eraDorothea Mair, Saskia Biskup, Wolfram Kress, et al.
Neurobiology of Aging|October 20, 2019
Identification of a rare presenilin 1 single amino acid deletion mutation (F175del) with unusual amyloid-β processing effectsJonathan Vöglein, Michael Willem, Johannes Trambauer, et al.
Lancet (London, England)|August 2, 2005
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraineMartin Dichgans, Tobias Freilinger, Gertrud Eckstein, et al.
European Journal of Human Genetics : EJHG|April 18, 2013
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophiesNicola Glöckle, Susanne Kohl, Julia Mohr, et al.
Brain Research|May 22, 2007
Localization of Parkinson's disease-associated LRRK2 in normal and pathological human brainShinji Higashi, Saskia Biskup, Andrew B West, et al.
Journal for Immunotherapy of Cancer|January 12, 2021
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 reportCarolin Blumendeller, Julius Boehme, Maximilian Frick, et al.
Gene|April 28, 2020
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine casesPonghatai Boonsimma, Marius Michael Gasser, Wiracha Netbaramee, et al.
Brain : a Journal of Neurology|July 24, 2019
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosisJulien H Park, Christiane Elpers, Janine Reunert, et al.
Vaccines|April 27, 2024
Case Report: Long-Term Survival of a Patient with Cerebral Metastasized Ovarian Carcinoma Treated with a Personalized Peptide Vaccine and Anti-PD-1 TherapyHenning Zelba, Christina Kyzirakos, Simone Kayser, et al.
Human Molecular Genetics|May 19, 2012
Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALSMatthis Synofzik, Dario Ronchi, Isil Keskin, et al.
Pageof 23

Showing results (121-130 of 226) with videos related to

Sort By:
Pageof 23
Brain Pathology (Zurich, Switzerland)|May 19, 2020
Differential diagnosis of vacuolar myopathies in the NGS eraDorothea Mair, Saskia Biskup, Wolfram Kress, et al.
Neurobiology of Aging|October 20, 2019
Identification of a rare presenilin 1 single amino acid deletion mutation (F175del) with unusual amyloid-β processing effectsJonathan Vöglein, Michael Willem, Johannes Trambauer, et al.
Lancet (London, England)|August 2, 2005
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraineMartin Dichgans, Tobias Freilinger, Gertrud Eckstein, et al.
European Journal of Human Genetics : EJHG|April 18, 2013
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophiesNicola Glöckle, Susanne Kohl, Julia Mohr, et al.
Brain Research|May 22, 2007
Localization of Parkinson's disease-associated LRRK2 in normal and pathological human brainShinji Higashi, Saskia Biskup, Andrew B West, et al.
Journal for Immunotherapy of Cancer|January 12, 2021
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 reportCarolin Blumendeller, Julius Boehme, Maximilian Frick, et al.
Gene|April 28, 2020
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine casesPonghatai Boonsimma, Marius Michael Gasser, Wiracha Netbaramee, et al.
Brain : a Journal of Neurology|July 24, 2019
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosisJulien H Park, Christiane Elpers, Janine Reunert, et al.
Vaccines|April 27, 2024
Case Report: Long-Term Survival of a Patient with Cerebral Metastasized Ovarian Carcinoma Treated with a Personalized Peptide Vaccine and Anti-PD-1 TherapyHenning Zelba, Christina Kyzirakos, Simone Kayser, et al.
Human Molecular Genetics|May 19, 2012
Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALSMatthis Synofzik, Dario Ronchi, Isil Keskin, et al.
Pageof 23