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Brain : a Journal of Neurology
|
February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
Michael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Nature Genetics
|
July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Margot A Cousin, Blake A Creighton, Keith A Breau, et al.
Annals of Neurology
|
September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
The Lancet. Neurology
|
October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing study
Michael Zech, Robert Jech, Sylvia Boesch, et al.
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of 29
Search research articles
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Showing results (281-290 of 284) with videos related to
Sort By:
Page
of 29
You have reached the last page of results.
This site can display upto 284 results.
Brain : a Journal of Neurology
|
February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
Michael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Nature Genetics
|
July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Margot A Cousin, Blake A Creighton, Keith A Breau, et al.
Annals of Neurology
|
September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
The Lancet. Neurology
|
October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing study
Michael Zech, Robert Jech, Sylvia Boesch, et al.
Page
of 29