Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Janine Altmüller

Showing results (161-170 of 326) with videos related to

Pageof 33
Sort By:
The Journal of Molecular Diagnostics : JMD|April 10, 2022
Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted SequencingNikolai Tschernoster, Florian Erger, Patrick R Walsh, et al.
Molecular Genetics and Genomics : MGG|December 23, 2016
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephalySalil K Sukumaran, Maria Stumpf, Sarah Salamon, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 13, 2013
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structureChristian Beetz, Adam Johnson, Amber L Schuh, et al.
Nature Aging|November 9, 2023
Spatial and single-cell profiling of the metabolome, transcriptome and epigenome of the aging mouse liverChrysa Nikopoulou, Niklas Kleinenkuhnen, Swati Parekh, et al.
American Journal of Human Genetics|September 22, 2015
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory ComplexHeike Olbrich, Carolin Cremers, Niki T Loges, et al.
Nature Communications|October 12, 2017
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorderPeter Huppke, Susann Weissbach, Joseph A Church, et al.
Life Science Alliance|April 11, 2019
m<sup>6</sup>A-mRNA methylation regulates cardiac gene expression and cellular growthVivien Kmietczyk, Eva Riechert, Laura Kalinski, et al.
Epilepsia Open|March 10, 2023
The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testingSophie von Brauchitsch, Denise Haslinger, Silvia Lindlar, et al.
Clinical Genetics|December 28, 2022
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domainLuisa Averdunk, Khalid Al-Thihli, Harald Surowy, et al.
European Journal of Human Genetics : EJHG|July 31, 2019
Assessment of genetic variant burden in epilepsy-associated brain lesionsLisa-Marie Niestroj, Patrick May, Mykyta Artomov, et al.
Pageof 33

Showing results (161-170 of 326) with videos related to

Sort By:
Pageof 33
The Journal of Molecular Diagnostics : JMD|April 10, 2022
Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted SequencingNikolai Tschernoster, Florian Erger, Patrick R Walsh, et al.
Molecular Genetics and Genomics : MGG|December 23, 2016
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephalySalil K Sukumaran, Maria Stumpf, Sarah Salamon, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 13, 2013
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structureChristian Beetz, Adam Johnson, Amber L Schuh, et al.
Nature Aging|November 9, 2023
Spatial and single-cell profiling of the metabolome, transcriptome and epigenome of the aging mouse liverChrysa Nikopoulou, Niklas Kleinenkuhnen, Swati Parekh, et al.
American Journal of Human Genetics|September 22, 2015
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory ComplexHeike Olbrich, Carolin Cremers, Niki T Loges, et al.
Nature Communications|October 12, 2017
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorderPeter Huppke, Susann Weissbach, Joseph A Church, et al.
Life Science Alliance|April 11, 2019
m<sup>6</sup>A-mRNA methylation regulates cardiac gene expression and cellular growthVivien Kmietczyk, Eva Riechert, Laura Kalinski, et al.
Epilepsia Open|March 10, 2023
The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testingSophie von Brauchitsch, Denise Haslinger, Silvia Lindlar, et al.
Clinical Genetics|December 28, 2022
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domainLuisa Averdunk, Khalid Al-Thihli, Harald Surowy, et al.
European Journal of Human Genetics : EJHG|July 31, 2019
Assessment of genetic variant burden in epilepsy-associated brain lesionsLisa-Marie Niestroj, Patrick May, Mykyta Artomov, et al.
Pageof 33