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European Journal of Human Genetics : EJHG
|
April 2, 2024
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
Samin A Sajan, Ralph Gradisch, Florian D Vogel, et al.
Neurology
|
September 26, 2025
Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing
Martin Krenn, Matias Wagner, Helena Schuller, et al.
Parkinsonism & Related Disorders
|
December 10, 2021
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia
Matej Skorvanek, Irena Rektorova, Wim Mandemakers, et al.
European Journal of Neurology
|
March 3, 2022
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study
Martin Krenn, Matthias Tomschik, Matias Wagner, et al.
American Journal of Human Genetics
|
February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Matias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
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.
Brain : a Journal of Neurology
|
November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course
Alessandro Esposito, Antonio Falace, Matias Wagner, et al.
American Journal of Human Genetics
|
March 31, 2026
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency
Natalie B Tan, Matthias Gautschi, Michael Raum, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 24, 2021
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Saskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, 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.
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Search research articles
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Showing results (101-110 of 188) with videos related to
Sort By:
Page
of 19
European Journal of Human Genetics : EJHG
|
April 2, 2024
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
Samin A Sajan, Ralph Gradisch, Florian D Vogel, et al.
Neurology
|
September 26, 2025
Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing
Martin Krenn, Matias Wagner, Helena Schuller, et al.
Parkinsonism & Related Disorders
|
December 10, 2021
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia
Matej Skorvanek, Irena Rektorova, Wim Mandemakers, et al.
European Journal of Neurology
|
March 3, 2022
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study
Martin Krenn, Matthias Tomschik, Matias Wagner, et al.
American Journal of Human Genetics
|
February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Matias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
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.
Brain : a Journal of Neurology
|
November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course
Alessandro Esposito, Antonio Falace, Matias Wagner, et al.
American Journal of Human Genetics
|
March 31, 2026
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency
Natalie B Tan, Matthias Gautschi, Michael Raum, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 24, 2021
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Saskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, 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.
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of 19