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Showing results (191-200 of 342) with videos related to

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Annals of Neurology|September 8, 2022
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic NeurotransmissionKonrad Platzer, Heinrich Sticht, Caleb Bupp, et al.
Human Molecular Genetics|June 27, 2023
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-functionScott J Myers, Hongjie Yuan, Riley E Perszyk, et al.
Epilepsia|May 12, 2019
Parental mosaicism in epilepsies due to alleged de novo variantsRikke S Møller, Nora Liebmann, Line H G Larsen, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and IDSilke Redler, Tim M Strom, Thomas Wieland, et al.
Biology Methods & Protocols|January 28, 2022
Improving one-step scarless genome editing in <i>Drosophila melanogaster</i> by combining <i>ovo</i> co-CRISPR selection with sgRNA target site maskingKatharina J Götze, Achmed Mrestani, Paula Beckmann, et al.
Acta Haematologica|October 28, 2024
Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic NeoplasmChristina Klötzer, Franziska Schnabel, Anne-Sophie Kubasch, et al.
Stem Cell Research|March 8, 2024
Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsyMorad Kamand, Reema Taleb, Methi Wathikthinnakon, et al.
Medrxiv : the Preprint Server for Health Sciences|March 28, 2023
The role of rare genetic variants enrichment in epilepsies of presumed genetic etiologyLinnaeus Bundalian, Yin-Yuan Su, Siwei Chen, et al.
Journal of Medical Genetics|June 14, 2012
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy geneMaria Kousi, Verneri Anttila, Angela Schulz, et al.
American Journal of Human Genetics|June 27, 2023
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general populationLinnaeus Bundalian, Yin-Yuan Su, Siwei Chen, et al.
Pageof 35

Showing results (191-200 of 342) with videos related to

Sort By:
Pageof 35
Annals of Neurology|September 8, 2022
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic NeurotransmissionKonrad Platzer, Heinrich Sticht, Caleb Bupp, et al.
Human Molecular Genetics|June 27, 2023
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-functionScott J Myers, Hongjie Yuan, Riley E Perszyk, et al.
Epilepsia|May 12, 2019
Parental mosaicism in epilepsies due to alleged de novo variantsRikke S Møller, Nora Liebmann, Line H G Larsen, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and IDSilke Redler, Tim M Strom, Thomas Wieland, et al.
Biology Methods & Protocols|January 28, 2022
Improving one-step scarless genome editing in <i>Drosophila melanogaster</i> by combining <i>ovo</i> co-CRISPR selection with sgRNA target site maskingKatharina J Götze, Achmed Mrestani, Paula Beckmann, et al.
Acta Haematologica|October 28, 2024
Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic NeoplasmChristina Klötzer, Franziska Schnabel, Anne-Sophie Kubasch, et al.
Stem Cell Research|March 8, 2024
Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsyMorad Kamand, Reema Taleb, Methi Wathikthinnakon, et al.
Medrxiv : the Preprint Server for Health Sciences|March 28, 2023
The role of rare genetic variants enrichment in epilepsies of presumed genetic etiologyLinnaeus Bundalian, Yin-Yuan Su, Siwei Chen, et al.
Journal of Medical Genetics|June 14, 2012
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy geneMaria Kousi, Verneri Anttila, Angela Schulz, et al.
American Journal of Human Genetics|June 27, 2023
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general populationLinnaeus Bundalian, Yin-Yuan Su, Siwei Chen, et al.
Pageof 35