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American Journal of Human Genetics
|
October 25, 2022
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
Kiana Mohajeri, Rachita Yadav, Eva D'haene, et al.
American Journal of Human Genetics
|
November 9, 2024
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly
Yulia Mostovoy, Philip M Boone, Yongqing Huang, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 2, 2026
Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion
Eunhye Lee, Wonju Kim, David H Beier, et al.
Human Molecular Genetics
|
November 26, 2013
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway
Xenia Lojewski, John F Staropoli, Sunita Biswas-Legrand, et al.
American Journal of Human Genetics
|
September 24, 2022
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
Derek J C Tai, Parisa Razaz, Serkan Erdin, et al.
Human Molecular Genetics
|
August 8, 2020
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1
Ricardo Mouro Pinto, Larissa Arning, James V Giordano, et al.
Annals of Neurology
|
December 21, 2016
Pathological correlations of [F-18]-AV-1451 imaging in non-alzheimer tauopathies
Marta Marquié, Marc D Normandin, Avery C Meltzer, et al.
American Journal of Human Genetics
|
March 24, 2022
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains
Jong-Min Lee, Yuan Huang, Michael Orth, et al.
Genome Biology
|
March 7, 2017
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
Ryan L Collins, Harrison Brand, Claire E Redin, et al.
Nature Neuroscience
|
April 5, 2022
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset
Branduff McAllister, Jasmine Donaldson, Caroline S Binda, et al.
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Search research articles
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Showing results (21-30 of 52) with videos related to
Sort By:
Page
of 6
American Journal of Human Genetics
|
October 25, 2022
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
Kiana Mohajeri, Rachita Yadav, Eva D'haene, et al.
American Journal of Human Genetics
|
November 9, 2024
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly
Yulia Mostovoy, Philip M Boone, Yongqing Huang, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 2, 2026
Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion
Eunhye Lee, Wonju Kim, David H Beier, et al.
Human Molecular Genetics
|
November 26, 2013
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway
Xenia Lojewski, John F Staropoli, Sunita Biswas-Legrand, et al.
American Journal of Human Genetics
|
September 24, 2022
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
Derek J C Tai, Parisa Razaz, Serkan Erdin, et al.
Human Molecular Genetics
|
August 8, 2020
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1
Ricardo Mouro Pinto, Larissa Arning, James V Giordano, et al.
Annals of Neurology
|
December 21, 2016
Pathological correlations of [F-18]-AV-1451 imaging in non-alzheimer tauopathies
Marta Marquié, Marc D Normandin, Avery C Meltzer, et al.
American Journal of Human Genetics
|
March 24, 2022
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains
Jong-Min Lee, Yuan Huang, Michael Orth, et al.
Genome Biology
|
March 7, 2017
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
Ryan L Collins, Harrison Brand, Claire E Redin, et al.
Nature Neuroscience
|
April 5, 2022
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset
Branduff McAllister, Jasmine Donaldson, Caroline S Binda, et al.
Page
of 6