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Lynn Dukes-Rimsky

Showing results (1-10 of 8) with videos related to

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American Journal of Medical Genetics. Part A|August 12, 2011
Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short statureLynn Dukes-Rimsky, Gregory F Guzauskas, Kenton R Holden, et al.
Plos One|October 4, 2018
Neurodevelopmental disorder-associated ZBTB20 gene variants affect dendritic and synaptic structureKelly A Jones, Yue Luo, Lynn Dukes-Rimsky, et al.
Cell Reports|November 19, 2024
O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorderCourtney Matheny-Rabun, Sneha S Mokashi, Silvia Radenkovic, et al.
JCI Insight|November 16, 2021
Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesisElsenoor J Klaver, Lynn Dukes-Rimsky, Brijesh Kumar, et al.
Biology|May 26, 2018
A Rare De Novo <i>RAI1</i> Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome PresentationClemer Abad, Melissa M Cook, Lei Cao, et al.
Disease Models & Mechanisms|January 26, 2026
Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a zebrafish model of MPSIVAJen-Jie Lee, Po-Nien Lu, Lynn Dukes-Rimsky, et al.
Cell Reports. Medicine|May 31, 2023
Tracer metabolomics reveals the role of aldose reductase in glycosylationSilvia Radenkovic, Anna N Ligezka, Sneha S Mokashi, et al.
Elife|January 11, 2019
The novel lncRNA <i>lnc-NR2F1</i> is pro-neurogenic and mutated in human neurodevelopmental disordersCheen Euong Ang, Qing Ma, Orly L Wapinski, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
American Journal of Medical Genetics. Part A|August 12, 2011
Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short statureLynn Dukes-Rimsky, Gregory F Guzauskas, Kenton R Holden, et al.
Plos One|October 4, 2018
Neurodevelopmental disorder-associated ZBTB20 gene variants affect dendritic and synaptic structureKelly A Jones, Yue Luo, Lynn Dukes-Rimsky, et al.
Cell Reports|November 19, 2024
O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorderCourtney Matheny-Rabun, Sneha S Mokashi, Silvia Radenkovic, et al.
JCI Insight|November 16, 2021
Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesisElsenoor J Klaver, Lynn Dukes-Rimsky, Brijesh Kumar, et al.
Biology|May 26, 2018
A Rare De Novo <i>RAI1</i> Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome PresentationClemer Abad, Melissa M Cook, Lei Cao, et al.
Disease Models & Mechanisms|January 26, 2026
Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a zebrafish model of MPSIVAJen-Jie Lee, Po-Nien Lu, Lynn Dukes-Rimsky, et al.
Cell Reports. Medicine|May 31, 2023
Tracer metabolomics reveals the role of aldose reductase in glycosylationSilvia Radenkovic, Anna N Ligezka, Sneha S Mokashi, et al.
Elife|January 11, 2019
The novel lncRNA <i>lnc-NR2F1</i> is pro-neurogenic and mutated in human neurodevelopmental disordersCheen Euong Ang, Qing Ma, Orly L Wapinski, et al.
Pageof 1