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Matias Wagner

Showing results (1-10 of 188) with videos related to

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Neuropediatrics|September 18, 2023
Precision Therapy in KCNQ2-Related EpilepsyIngo Borggraefe, Matias Wagner
Neuropediatrics|October 27, 2025
Genetic Variants and Disease Mechanisms: Lessons from Monogenic Childhood EpilepsiesAva Oberlack, Matias Wagner
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|July 21, 2025
Antisense oligonucleotide therapies for monogenic disordersIlona Krey-Grauert, Irene Ferro, Matias Wagner
Neuropediatrics|July 25, 2019
Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature ReviewClaudia Stendel, Matias Wagner, Guenther Rudolph, et al.
Clinical Genetics|July 27, 2021
A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmiaEva Maria Christina Schwaibold, Melanie Brugger, Matias Wagner
Gene|April 16, 2018
A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndromeGloria Sarah Leszinski, Katharina Warncke, Julia Hoefele, et al.
Neuropediatrics|June 19, 2018
Low Voice, Spasmodic Dysphonia, and Hand Dystonia as Clinical Clues for KMT2B-Associated Early-Onset DystoniaAnnette Hackenberg, Matias Wagner, Jan Pahnke, et al.
Der Nervenarzt|January 16, 2019
[Exome diagnostics in neurology]Michael Zech, Matias Wagner, Barbara Schormair, et al.
Neuropediatrics|January 3, 2024
Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 MutationNicholas Fearns, Matias Wagner, Ingo Borggräfe, et al.
Gene|February 3, 2018
Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencingRoman Günthner, Matias Wagner, Tobias Thurm, et al.
Pageof 19

Showing results (1-10 of 188) with videos related to

Sort By:
Pageof 19
Neuropediatrics|September 18, 2023
Precision Therapy in KCNQ2-Related EpilepsyIngo Borggraefe, Matias Wagner
Neuropediatrics|October 27, 2025
Genetic Variants and Disease Mechanisms: Lessons from Monogenic Childhood EpilepsiesAva Oberlack, Matias Wagner
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|July 21, 2025
Antisense oligonucleotide therapies for monogenic disordersIlona Krey-Grauert, Irene Ferro, Matias Wagner
Neuropediatrics|July 25, 2019
Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature ReviewClaudia Stendel, Matias Wagner, Guenther Rudolph, et al.
Clinical Genetics|July 27, 2021
A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmiaEva Maria Christina Schwaibold, Melanie Brugger, Matias Wagner
Gene|April 16, 2018
A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndromeGloria Sarah Leszinski, Katharina Warncke, Julia Hoefele, et al.
Neuropediatrics|June 19, 2018
Low Voice, Spasmodic Dysphonia, and Hand Dystonia as Clinical Clues for KMT2B-Associated Early-Onset DystoniaAnnette Hackenberg, Matias Wagner, Jan Pahnke, et al.
Der Nervenarzt|January 16, 2019
[Exome diagnostics in neurology]Michael Zech, Matias Wagner, Barbara Schormair, et al.
Neuropediatrics|January 3, 2024
Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 MutationNicholas Fearns, Matias Wagner, Ingo Borggräfe, et al.
Gene|February 3, 2018
Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencingRoman Günthner, Matias Wagner, Tobias Thurm, et al.
Pageof 19