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Brain : a Journal of Neurology
|
September 30, 2021
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset
Nazanin Mirza-Schreiber, Michael Zech, Rory Wilson, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 24, 2023
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction
Philip Harrer, Matej Škorvánek, Volker Kittke, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 1, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza-Schreiber, et al.
Kidney International Reports
|
April 14, 2025
Trio Exome Sequencing in VACTERL Association
Jasmina Ćomić, Erik Tilch, Korbinian M Riedhammer, et al.
Parkinsonism & Related Disorders
|
February 21, 2021
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
Michael Zech, Sylvia Boesch, Matej Škorvánek, et al.
Brain : a Journal of Neurology
|
April 30, 2025
Pleiotropic effects of MORC2 derive from its epigenetic signature
Fatemeh Peymani, Tomohiro Ebihara, Dmitrii Smirnov, et al.
Clinical Genetics
|
February 23, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
Theresa Brunet, Robert Jech, Melanie Brugger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 6, 2020
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
Sakshi Singh, Aditi Gupta, Michael Zech, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
Kamal Khan, Michael Zech, Angela T Morgan, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 1, 2021
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
Michael Zech, Kishore R Kumar, Sophie Reining, et al.
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of 20
Search research articles
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Showing results (161-170 of 196) with videos related to
Sort By:
Page
of 20
Brain : a Journal of Neurology
|
September 30, 2021
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset
Nazanin Mirza-Schreiber, Michael Zech, Rory Wilson, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 24, 2023
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction
Philip Harrer, Matej Škorvánek, Volker Kittke, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 1, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza-Schreiber, et al.
Kidney International Reports
|
April 14, 2025
Trio Exome Sequencing in VACTERL Association
Jasmina Ćomić, Erik Tilch, Korbinian M Riedhammer, et al.
Parkinsonism & Related Disorders
|
February 21, 2021
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
Michael Zech, Sylvia Boesch, Matej Škorvánek, et al.
Brain : a Journal of Neurology
|
April 30, 2025
Pleiotropic effects of MORC2 derive from its epigenetic signature
Fatemeh Peymani, Tomohiro Ebihara, Dmitrii Smirnov, et al.
Clinical Genetics
|
February 23, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
Theresa Brunet, Robert Jech, Melanie Brugger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 6, 2020
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
Sakshi Singh, Aditi Gupta, Michael Zech, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
Kamal Khan, Michael Zech, Angela T Morgan, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 1, 2021
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
Michael Zech, Kishore R Kumar, Sophie Reining, et al.
Page
of 20