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Saskia Biskup

Showing results (1-10 of 226) with videos related to

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Journal of Neurology|May 24, 2012
Genetic testing in neurological diseasesSaskia Biskup, Thomas Gasser
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology|September 26, 2006
Detrimental deletions: mitochondria, aging and Parkinson's diseaseSaskia Biskup, Darren J Moore
Biochimica Et Biophysica Acta|November 1, 2008
Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's diseaseSaskia Biskup, Andrew B West
Journal of Child Neurology|March 28, 2013
Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathyMafalda Sampaio, Ruben Rocha, Saskia Biskup, et al.
Journal of Movement Disorders|October 30, 2020
New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant AtaxiaYannic Saathoff, Saskia Biskup, Claudia Funke, et al.
Genes|October 26, 2024
Comment on Park et al. Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline. <i>Genes</i> 2024, <i>15</i>, 136Florian Battke, Martin Schulze, Björn Schulte, et al.
Frontiers in Oncology|November 29, 2023
Network-targeting combination therapy of leptomeningeal glioblastoma using multiple synthetic lethal strategies: a case reportMichael P Castro, Bence Sipos, Saskia Biskup, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|February 8, 2020
Two mutations in the nicotinic acetylcholine receptor subunit A4 (CHRNA4) in a family with autosomal dominant sleep-related hypermotor epilepsyLisa Langenbruch, Saskia Biskup, Peter Young, et al.
Cornea|December 7, 2020
Identification of a New Genetic Mutation Associated With Peters AnomalyHanna Faber, Oliver Puk, Anja Holz, et al.
Clinical Case Reports|February 16, 2018
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case reportCornelia Hofstaetter, Carolina Courage, Deborah Bartholdi, et al.
Pageof 23

Showing results (1-10 of 226) with videos related to

Sort By:
Pageof 23
Journal of Neurology|May 24, 2012
Genetic testing in neurological diseasesSaskia Biskup, Thomas Gasser
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology|September 26, 2006
Detrimental deletions: mitochondria, aging and Parkinson's diseaseSaskia Biskup, Darren J Moore
Biochimica Et Biophysica Acta|November 1, 2008
Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's diseaseSaskia Biskup, Andrew B West
Journal of Child Neurology|March 28, 2013
Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathyMafalda Sampaio, Ruben Rocha, Saskia Biskup, et al.
Journal of Movement Disorders|October 30, 2020
New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant AtaxiaYannic Saathoff, Saskia Biskup, Claudia Funke, et al.
Genes|October 26, 2024
Comment on Park et al. Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline. <i>Genes</i> 2024, <i>15</i>, 136Florian Battke, Martin Schulze, Björn Schulte, et al.
Frontiers in Oncology|November 29, 2023
Network-targeting combination therapy of leptomeningeal glioblastoma using multiple synthetic lethal strategies: a case reportMichael P Castro, Bence Sipos, Saskia Biskup, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|February 8, 2020
Two mutations in the nicotinic acetylcholine receptor subunit A4 (CHRNA4) in a family with autosomal dominant sleep-related hypermotor epilepsyLisa Langenbruch, Saskia Biskup, Peter Young, et al.
Cornea|December 7, 2020
Identification of a New Genetic Mutation Associated With Peters AnomalyHanna Faber, Oliver Puk, Anja Holz, et al.
Clinical Case Reports|February 16, 2018
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case reportCornelia Hofstaetter, Carolina Courage, Deborah Bartholdi, et al.
Pageof 23