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Michael O Dorschner

Showing results (11-20 of 66) with videos related to

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Neuropediatrics|January 14, 2021
Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor FeaturesPin-Yi Ko, Ian A Glass, Suzanne Crandall, et al.
Muscle & Nerve|December 14, 2017
An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical featuresDong-Hui Chen, Maxwell Ma, Mena Scavina, et al.
Journal of the Neurological Sciences|August 20, 2023
NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's diseaseOlena Korvatska, Stephanie A Bucks, Rebecca A Yoda, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 8, 2009
Sequencing newly replicated DNA reveals widespread plasticity in human replication timingR Scott Hansen, Sean Thomas, Richard Sandstrom, et al.
Blood|October 24, 2002
The zebrafish mutant gene chardonnay (cdy) encodes divalent metal transporter 1 (DMT1)Adriana Donovan, Alison Brownlie, Michael O Dorschner, et al.
Immunity|October 13, 2009
CCCTC-binding factor and the transcription factor T-bet orchestrate T helper 1 cell-specific structure and function at the interferon-gamma locusMasayuki Sekimata, Mercedes Pérez-Melgosa, Sara A Miller, et al.
Nature Immunology|June 5, 2007
Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-gammaJamie R Schoenborn, Michael O Dorschner, Masayuki Sekimata, et al.
Neurobiology of Aging|March 8, 2017
Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South AmericaEmilia M Gatto, Ricardo F Allegri, Gustavo Da Prat, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 12, 2014
Refining the structure and content of clinical genomic reportsMichael O Dorschner, Laura M Amendola, Brian H Shirts, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 20, 2004
Discovery of functional noncoding elements by digital analysis of chromatin structurePeter J Sabo, Michael Hawrylycz, James C Wallace, et al.
Pageof 7

Showing results (11-20 of 66) with videos related to

Sort By:
Pageof 7
Neuropediatrics|January 14, 2021
Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor FeaturesPin-Yi Ko, Ian A Glass, Suzanne Crandall, et al.
Muscle & Nerve|December 14, 2017
An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical featuresDong-Hui Chen, Maxwell Ma, Mena Scavina, et al.
Journal of the Neurological Sciences|August 20, 2023
NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's diseaseOlena Korvatska, Stephanie A Bucks, Rebecca A Yoda, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 8, 2009
Sequencing newly replicated DNA reveals widespread plasticity in human replication timingR Scott Hansen, Sean Thomas, Richard Sandstrom, et al.
Blood|October 24, 2002
The zebrafish mutant gene chardonnay (cdy) encodes divalent metal transporter 1 (DMT1)Adriana Donovan, Alison Brownlie, Michael O Dorschner, et al.
Immunity|October 13, 2009
CCCTC-binding factor and the transcription factor T-bet orchestrate T helper 1 cell-specific structure and function at the interferon-gamma locusMasayuki Sekimata, Mercedes Pérez-Melgosa, Sara A Miller, et al.
Nature Immunology|June 5, 2007
Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-gammaJamie R Schoenborn, Michael O Dorschner, Masayuki Sekimata, et al.
Neurobiology of Aging|March 8, 2017
Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South AmericaEmilia M Gatto, Ricardo F Allegri, Gustavo Da Prat, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 12, 2014
Refining the structure and content of clinical genomic reportsMichael O Dorschner, Laura M Amendola, Brian H Shirts, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 20, 2004
Discovery of functional noncoding elements by digital analysis of chromatin structurePeter J Sabo, Michael Hawrylycz, James C Wallace, et al.
Pageof 7