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Matias Wagner

Showing results (41-50 of 188) with videos related to

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Seizure|March 7, 2021
Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1BMartin Krenn, Monika Schloegl, Ekaterina Pataraia, et al.
Neuropediatrics|September 16, 2017
Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related EpilepsyMatias Wagner, Mirjana Gusic, Roman Günthner, et al.
Endocrine|November 8, 2023
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)Sebastian Gippert, Matias Wagner, Theresa Brunet, et al.
Acta Dermato-Venereologica|June 30, 2018
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related DisordersLuana Niculescu, Matias Wagner, Dominik S Westphal, et al.
Human Genomics|June 17, 2023
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genesSara Silvaieh, Theresa König, Raphael Wurm, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP|April 6, 2022
Connectome Analysis in an Individual with SETD1B -Related Neurodevelopmental Disorder and EpilepsyRosa Weng, Karl-Heinz Nenning, Michelle Schwarz, et al.
Annals of Clinical and Translational Neurology|May 30, 2019
Biallelic mutations in <i>PIGP</i> cause developmental and epileptic encephalopathyMartin Krenn, Alexej Knaus, Dominik S Westphal, et al.
American Journal of Medical Genetics. Part A|October 4, 2025
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental DisordersTheresa Brunet, Michael Zech, Ulrich A Schatz, et al.
Epilepsia|February 13, 2022
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotypeFlorian D Vogel, Martin Krenn, Dominik S Westphal, et al.
Clinical Genetics|August 18, 2020
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature reviewUrania Kotzaeridou, Sara K Young-Baird, Vanessa Suckow, et al.
Pageof 19

Showing results (41-50 of 188) with videos related to

Sort By:
Pageof 19
Seizure|March 7, 2021
Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1BMartin Krenn, Monika Schloegl, Ekaterina Pataraia, et al.
Neuropediatrics|September 16, 2017
Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related EpilepsyMatias Wagner, Mirjana Gusic, Roman Günthner, et al.
Endocrine|November 8, 2023
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)Sebastian Gippert, Matias Wagner, Theresa Brunet, et al.
Acta Dermato-Venereologica|June 30, 2018
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related DisordersLuana Niculescu, Matias Wagner, Dominik S Westphal, et al.
Human Genomics|June 17, 2023
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genesSara Silvaieh, Theresa König, Raphael Wurm, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP|April 6, 2022
Connectome Analysis in an Individual with SETD1B -Related Neurodevelopmental Disorder and EpilepsyRosa Weng, Karl-Heinz Nenning, Michelle Schwarz, et al.
Annals of Clinical and Translational Neurology|May 30, 2019
Biallelic mutations in <i>PIGP</i> cause developmental and epileptic encephalopathyMartin Krenn, Alexej Knaus, Dominik S Westphal, et al.
American Journal of Medical Genetics. Part A|October 4, 2025
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental DisordersTheresa Brunet, Michael Zech, Ulrich A Schatz, et al.
Epilepsia|February 13, 2022
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotypeFlorian D Vogel, Martin Krenn, Dominik S Westphal, et al.
Clinical Genetics|August 18, 2020
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature reviewUrania Kotzaeridou, Sara K Young-Baird, Vanessa Suckow, et al.
Pageof 19