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Saskia Biskup

Showing results (11-20 of 226) with videos related to

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Journal of Orthopaedics|June 9, 2018
McArdle's disease: A differential diagnosis of idiopathic toe walkingDavid Pomarino, Stephan Martin, Andrea Pomarino, et al.
Zeitschrift Fur Geburtshilfe Und Neonatologie|September 29, 2025
[Omodysplasia Type II - first publication of de novo Mutation in FZD2 Gene]Stanislaw Jurk, Kristin Schröck, Saskia Biskup, et al.
Der Internist|December 8, 2021
[What is confirmed in the diagnostics of autoinflammatory fever diseases?]Stephen Gilbert, Heinz Gabriel, Anne Pankow, et al.
Cephalalgia : an International Journal of Headache|November 18, 2017
Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499LVictoria Schubert, Eva Auffenberg, Saskia Biskup, et al.
European Journal of Medical Genetics|June 27, 2020
Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46Katja Kloth, Claudia Cozma, Maxim Bester, et al.
Acta Ophthalmologica|October 4, 2019
Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B geneFadi Nasser, Anne Kurtenbach, Saskia Biskup, et al.
Molecular Syndromology|September 9, 2020
A Novel de novo Frameshift Mutation in the <i>BCL11A</i> Gene in a Patient with Intellectual Disability Syndrome and EpilepsyGeorg Christoph Korenke, Björn Schulte, Saskia Biskup, et al.
Child Neurology Open|August 23, 2021
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome SequencingChristina M Quitmann, Stephan Rust, Janine Reunert, et al.
Expert Review of Molecular Diagnostics|May 27, 2017
The role of genetic testing in epilepsy diagnosis and managementYvonne G Weber, Saskia Biskup, Katherine L Helbig, et al.
Journal of Neurology|August 8, 2014
Severe familial paroxysmal exercise-induced dyskinesiaPawel Tacik, Sebastian Loens, Christoph Schrader, et al.
Pageof 23

Showing results (11-20 of 226) with videos related to

Sort By:
Pageof 23
Journal of Orthopaedics|June 9, 2018
McArdle's disease: A differential diagnosis of idiopathic toe walkingDavid Pomarino, Stephan Martin, Andrea Pomarino, et al.
Zeitschrift Fur Geburtshilfe Und Neonatologie|September 29, 2025
[Omodysplasia Type II - first publication of de novo Mutation in FZD2 Gene]Stanislaw Jurk, Kristin Schröck, Saskia Biskup, et al.
Der Internist|December 8, 2021
[What is confirmed in the diagnostics of autoinflammatory fever diseases?]Stephen Gilbert, Heinz Gabriel, Anne Pankow, et al.
Cephalalgia : an International Journal of Headache|November 18, 2017
Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499LVictoria Schubert, Eva Auffenberg, Saskia Biskup, et al.
European Journal of Medical Genetics|June 27, 2020
Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46Katja Kloth, Claudia Cozma, Maxim Bester, et al.
Acta Ophthalmologica|October 4, 2019
Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B geneFadi Nasser, Anne Kurtenbach, Saskia Biskup, et al.
Molecular Syndromology|September 9, 2020
A Novel de novo Frameshift Mutation in the <i>BCL11A</i> Gene in a Patient with Intellectual Disability Syndrome and EpilepsyGeorg Christoph Korenke, Björn Schulte, Saskia Biskup, et al.
Child Neurology Open|August 23, 2021
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome SequencingChristina M Quitmann, Stephan Rust, Janine Reunert, et al.
Expert Review of Molecular Diagnostics|May 27, 2017
The role of genetic testing in epilepsy diagnosis and managementYvonne G Weber, Saskia Biskup, Katherine L Helbig, et al.
Journal of Neurology|August 8, 2014
Severe familial paroxysmal exercise-induced dyskinesiaPawel Tacik, Sebastian Loens, Christoph Schrader, et al.
Pageof 23