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Ebba Lohmann

Showing results (71-80 of 77) with videos related to

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Neurology|March 22, 2022
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic VariantsNiklas Schwarz, Simone Seiffert, Manuela Pendziwiat, et al.
Medrxiv : the Preprint Server for Health Sciences|December 16, 2024
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome SequencingMirja Thomsen, Fabian Ott, Sebastian Loens, et al.
Nature Genetics|November 18, 2014
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMikko Muona, Samuel F Berkovic, Leanne M Dibbens, et al.
Brain : a Journal of Neurology|May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxiaMartina Minnerop, Delia Kurzwelly, Holger Wagner, et al.
Annals of Clinical and Translational Neurology|June 19, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome SequencingMirja Thomsen, Fabian Ott, Sebastian Loens, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 17, 2024
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association StudiesBjörn-Hergen Laabs, Katja Lohmann, Eva-Juliane Vollstedt, et al.
Alzheimer'S Research & Therapy|March 28, 2024
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factorsImogen J Swift, Rosa Rademakers, NiCole Finch, et al.
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Showing results (71-80 of 77) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 77 results.
Neurology|March 22, 2022
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic VariantsNiklas Schwarz, Simone Seiffert, Manuela Pendziwiat, et al.
Medrxiv : the Preprint Server for Health Sciences|December 16, 2024
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome SequencingMirja Thomsen, Fabian Ott, Sebastian Loens, et al.
Nature Genetics|November 18, 2014
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMikko Muona, Samuel F Berkovic, Leanne M Dibbens, et al.
Brain : a Journal of Neurology|May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxiaMartina Minnerop, Delia Kurzwelly, Holger Wagner, et al.
Annals of Clinical and Translational Neurology|June 19, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome SequencingMirja Thomsen, Fabian Ott, Sebastian Loens, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 17, 2024
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association StudiesBjörn-Hergen Laabs, Katja Lohmann, Eva-Juliane Vollstedt, et al.
Alzheimer'S Research & Therapy|March 28, 2024
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factorsImogen J Swift, Rosa Rademakers, NiCole Finch, et al.
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