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Holger Prokisch

Showing results (351-360 of 370) with videos related to

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Brain : a Journal of Neurology|February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystoniaMichael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Nature Genetics|October 13, 2009
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortiumNicole Soranzo, Tim D Spector, Massimo Mangino, et al.
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Acta Neuropathologica|June 6, 2014
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degenerationJulie van der Zee, Tim Van Langenhove, Gabor G Kovacs, et al.
Human Mutation|January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiencyMarcello Scala, Saskia B Wortmann, Namik Kaya, et al.
Hepatology (Baltimore, Md.)|November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate originDominic Lenz, Lea D Schlieben, Masaru Shimura, et al.
Genome Biology|December 14, 2016
DNA methylation signatures of chronic low-grade inflammation are associated with complex diseasesSymen Ligthart, Carola Marzi, Stella Aslibekyan, et al.
Plos Genetics|July 9, 2011
Multiple loci are associated with white blood cell phenotypesMichael A Nalls, David J Couper, Toshiko Tanaka, et al.
The Lancet. Neurology|October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing studyMichael Zech, Robert Jech, Sylvia Boesch, et al.
Pageof 37

Showing results (351-360 of 370) with videos related to

Sort By:
Pageof 37
Brain : a Journal of Neurology|February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystoniaMichael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Nature Genetics|October 13, 2009
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortiumNicole Soranzo, Tim D Spector, Massimo Mangino, et al.
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Acta Neuropathologica|June 6, 2014
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degenerationJulie van der Zee, Tim Van Langenhove, Gabor G Kovacs, et al.
Human Mutation|January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiencyMarcello Scala, Saskia B Wortmann, Namik Kaya, et al.
Hepatology (Baltimore, Md.)|November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate originDominic Lenz, Lea D Schlieben, Masaru Shimura, et al.
Genome Biology|December 14, 2016
DNA methylation signatures of chronic low-grade inflammation are associated with complex diseasesSymen Ligthart, Carola Marzi, Stella Aslibekyan, et al.
Plos Genetics|July 9, 2011
Multiple loci are associated with white blood cell phenotypesMichael A Nalls, David J Couper, Toshiko Tanaka, et al.
The Lancet. Neurology|October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing studyMichael Zech, Robert Jech, Sylvia Boesch, et al.
Pageof 37