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European Journal of Medical Genetics
|
October 6, 2022
A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article "BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020)."
Philip Harrer, Verena Leppmeier, Andrea Berger, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 26, 2025
Rediscovery of the Tubulin β-4A p.Arg2Gly Variant in Whispering Dysphonia: A Report from Austria
Omar Keritam, Susann Badmann, Maureen Jacob, et al.
Scientific Reports
|
November 23, 2024
RLS-associated MEIS transcription factors control distinct processes in human neural stem cells
Volker Kittke, Chen Zhao, Daniel D Lam, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 22, 2024
Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders
Elisabetta Indelicato, Luigi Michele Romito, Philip Harrer, et al.
Parkinsonism & Related Disorders
|
February 11, 2025
Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders
Antonia M Stehr, Jan Fischer, Nazanin Mirza-Schreiber, et al.
Parkinsonism & Related Disorders
|
March 22, 2025
Corrigendum to "Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders" [Parkinson. Relat. Disord. (2025) 133 107319]
Antonia M Stehr, Jan Fischer, Nazanin Mirza-Schreiber, et al.
Ebiomedicine
|
February 14, 2024
Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity
Philip Harrer, Julica Inderhees, Chen Zhao, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 22, 2023
Epigenetic Association Analyses and Risk Prediction of RLS
Philip Harrer, Nazanin Mirza-Schreiber, Vanessa Mandel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 25, 2025
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase
Philip Harrer, Magdalena Krygier, Martin Krenn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 9, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics
Ugo Sorrentino, Melanie Brugger, Alice Saparov, et al.
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of 3
Search research articles
Search
Showing results (1-10 of 22) with videos related to
Sort By:
Page
of 3
European Journal of Medical Genetics
|
October 6, 2022
A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article "BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020)."
Philip Harrer, Verena Leppmeier, Andrea Berger, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 26, 2025
Rediscovery of the Tubulin β-4A p.Arg2Gly Variant in Whispering Dysphonia: A Report from Austria
Omar Keritam, Susann Badmann, Maureen Jacob, et al.
Scientific Reports
|
November 23, 2024
RLS-associated MEIS transcription factors control distinct processes in human neural stem cells
Volker Kittke, Chen Zhao, Daniel D Lam, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 22, 2024
Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders
Elisabetta Indelicato, Luigi Michele Romito, Philip Harrer, et al.
Parkinsonism & Related Disorders
|
February 11, 2025
Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders
Antonia M Stehr, Jan Fischer, Nazanin Mirza-Schreiber, et al.
Parkinsonism & Related Disorders
|
March 22, 2025
Corrigendum to "Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders" [Parkinson. Relat. Disord. (2025) 133 107319]
Antonia M Stehr, Jan Fischer, Nazanin Mirza-Schreiber, et al.
Ebiomedicine
|
February 14, 2024
Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity
Philip Harrer, Julica Inderhees, Chen Zhao, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 22, 2023
Epigenetic Association Analyses and Risk Prediction of RLS
Philip Harrer, Nazanin Mirza-Schreiber, Vanessa Mandel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 25, 2025
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase
Philip Harrer, Magdalena Krygier, Martin Krenn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 9, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics
Ugo Sorrentino, Melanie Brugger, Alice Saparov, et al.
Page
of 3