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Matias Wagner

Showing results (11-20 of 188) with videos related to

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Diseases (Basel, Switzerland)|June 13, 2020
The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in <i>MT-ATP6</i> Mutations?Diana Lehmann Urban, Leila Motlagh Scholle, Matias Wagner, et al.
Annals of Clinical and Translational Neurology|February 28, 2020
Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorderTheresa Brunet, Milena Radivojkov-Blagojevic, Peter Lichtner, et al.
Ebiomedicine|February 18, 2022
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databasesHana Kolarova, Jing Tan, Tim M Strom, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 6, 2018
First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndromeKorbinian Maria Riedhammer, Gloria Sarah Leszinski, Stephanie Andres, et al.
Neurology. Genetics|August 13, 2019
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencingMartin Krenn, Ivan Milenkovic, Gertrud Eckstein, et al.
Seizure|August 27, 2025
ADAM23 haploinsufficiency as a putative oligogenic contributor in an individual with focal epilepsyMartin Krenn, Karl-Heinz Nenning, Susanne Aull-Watschinger, et al.
Annals of Clinical and Translational Neurology|May 27, 2026
Prominent Movement Disorders in RNU2-2-Related SpliceosomopathyMagdalena Krygier, Ugo Sorrentino, Matias Wagner, et al.
Gene|November 9, 2020
Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorderMelanie Brugger, Theresa Brunet, Matias Wagner, et al.
Neuropediatrics|September 11, 2018
A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental DelayDominik Sebastian Westphal, Korbinian Maria Riedhammer, Reka Kovacs-Nagy, et al.
Neuropediatrics|January 29, 2024
A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile ParkinsonismJohannes Gebert, Theresa Brunet, Matias Wagner, et al.
Pageof 19

Showing results (11-20 of 188) with videos related to

Sort By:
Pageof 19
Diseases (Basel, Switzerland)|June 13, 2020
The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in <i>MT-ATP6</i> Mutations?Diana Lehmann Urban, Leila Motlagh Scholle, Matias Wagner, et al.
Annals of Clinical and Translational Neurology|February 28, 2020
Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorderTheresa Brunet, Milena Radivojkov-Blagojevic, Peter Lichtner, et al.
Ebiomedicine|February 18, 2022
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databasesHana Kolarova, Jing Tan, Tim M Strom, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 6, 2018
First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndromeKorbinian Maria Riedhammer, Gloria Sarah Leszinski, Stephanie Andres, et al.
Neurology. Genetics|August 13, 2019
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencingMartin Krenn, Ivan Milenkovic, Gertrud Eckstein, et al.
Seizure|August 27, 2025
ADAM23 haploinsufficiency as a putative oligogenic contributor in an individual with focal epilepsyMartin Krenn, Karl-Heinz Nenning, Susanne Aull-Watschinger, et al.
Annals of Clinical and Translational Neurology|May 27, 2026
Prominent Movement Disorders in RNU2-2-Related SpliceosomopathyMagdalena Krygier, Ugo Sorrentino, Matias Wagner, et al.
Gene|November 9, 2020
Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorderMelanie Brugger, Theresa Brunet, Matias Wagner, et al.
Neuropediatrics|September 11, 2018
A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental DelayDominik Sebastian Westphal, Korbinian Maria Riedhammer, Reka Kovacs-Nagy, et al.
Neuropediatrics|January 29, 2024
A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile ParkinsonismJohannes Gebert, Theresa Brunet, Matias Wagner, et al.
Pageof 19