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Mina Ryten

Showing results (71-80 of 176) with videos related to

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Science Advances|September 12, 2020
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disordersDavid Zhang, Sebastian Guelfi, Sonia Garcia-Ruiz, et al.
Nature|May 14, 2015
Recursive splicing in long vertebrate genesChristopher R Sibley, Warren Emmett, Lorea Blazquez, et al.
American Journal of Human Genetics|December 4, 2012
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesisGavin Charlesworth, Vincent Plagnol, Kira M Holmström, et al.
Nature Communications|August 25, 2011
Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locusMichael J Devine, Mina Ryten, Petr Vodicka, et al.
The Journal of Physical Chemistry. B|April 9, 2024
RASP: Optimal Single Puncta Detection in Complex Cellular BackgroundsBin Fu, Emma E Brock, Rebecca Andrews, et al.
Neurology. Genetics|August 10, 2023
Genome-wide Analysis of Motor Progression in Parkinson DiseaseAlejandro Martínez Carrasco, Raquel Real, Michael Lawton, et al.
American Journal of Human Genetics|June 3, 2017
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and HypomyelinationViorica Chelban, Nisha Patel, Jana Vandrovcova, et al.
Human Mutation|November 12, 2017
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and functionVincenzo Salpietro, Stephanie Efthymiou, Andreea Manole, et al.
Rare Diseases (Austin, Tex.)|August 9, 2016
Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseasesMoones Heidari, Sam H Gerami, Brianna Bassett, et al.
Nucleic Acids Research|February 26, 2013
Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studiesAdaikalavan Ramasamy, Daniah Trabzuni, J Raphael Gibbs, et al.
Pageof 18

Showing results (71-80 of 176) with videos related to

Sort By:
Pageof 18
Science Advances|September 12, 2020
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disordersDavid Zhang, Sebastian Guelfi, Sonia Garcia-Ruiz, et al.
Nature|May 14, 2015
Recursive splicing in long vertebrate genesChristopher R Sibley, Warren Emmett, Lorea Blazquez, et al.
American Journal of Human Genetics|December 4, 2012
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesisGavin Charlesworth, Vincent Plagnol, Kira M Holmström, et al.
Nature Communications|August 25, 2011
Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locusMichael J Devine, Mina Ryten, Petr Vodicka, et al.
The Journal of Physical Chemistry. B|April 9, 2024
RASP: Optimal Single Puncta Detection in Complex Cellular BackgroundsBin Fu, Emma E Brock, Rebecca Andrews, et al.
Neurology. Genetics|August 10, 2023
Genome-wide Analysis of Motor Progression in Parkinson DiseaseAlejandro Martínez Carrasco, Raquel Real, Michael Lawton, et al.
American Journal of Human Genetics|June 3, 2017
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and HypomyelinationViorica Chelban, Nisha Patel, Jana Vandrovcova, et al.
Human Mutation|November 12, 2017
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and functionVincenzo Salpietro, Stephanie Efthymiou, Andreea Manole, et al.
Rare Diseases (Austin, Tex.)|August 9, 2016
Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseasesMoones Heidari, Sam H Gerami, Brianna Bassett, et al.
Nucleic Acids Research|February 26, 2013
Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studiesAdaikalavan Ramasamy, Daniah Trabzuni, J Raphael Gibbs, et al.
Pageof 18