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A Cousin

Showing results (191-200 of 248) with videos related to

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Nature Cell Biology|July 12, 2003
Cdk5 is essential for synaptic vesicle endocytosisTimothy C Tan, Valentina A Valova, Chandra S Malladi, et al.
The Journal of Clinical Investigation|February 24, 2015
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cyclingKate Baker, Sarah L Gordon, Detelina Grozeva, et al.
Mayo Clinic Proceedings|July 2, 2019
Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained CytopeniasAbhishek A Mangaonkar, Alejandro Ferrer, Filippo Pinto E Vairo, et al.
Disease Models & Mechanisms|April 26, 2014
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeletonSarah M Carpanini, Lisa McKie, Derek Thomson, et al.
European Journal of Human Genetics : EJHG|August 12, 2018
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variantsNicole J Boczek, Katharina Hopp, Lacey Benoit, et al.
Orphanet Journal of Rare Diseases|May 22, 2026
Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapiesNicole Nolen, Annemieke Aartsma-Rus, Christine Caneva, et al.
The Journal of Biological Chemistry|January 7, 2017
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPL<i>X</i> Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein FoldingPatrick R Blackburn, Alexander Tischer, Michael T Zimmermann, et al.
Scientific Reports|May 17, 2024
Radiation-induced alteration of apatite on the surface of Mars: first in situ observations with SuperCam Raman onboard PerseveranceE Clavé, O Beyssac, S Bernard, et al.
Neurology. Genetics|September 11, 2025
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of <i>LMNB1</i>-Related Autosomal Dominant LeukodystrophyRadhika Dhamija, W Oliver Tobin, Pietro Cortelli, et al.
European Journal of Human Genetics : EJHG|April 13, 2019
Variants in DOCK3 cause developmental delay and hypotoniaKimberly Wiltrout, Alejandro Ferrer, Ingrid van de Laar, et al.
Pageof 25

Showing results (191-200 of 248) with videos related to

Sort By:
Pageof 25
Nature Cell Biology|July 12, 2003
Cdk5 is essential for synaptic vesicle endocytosisTimothy C Tan, Valentina A Valova, Chandra S Malladi, et al.
The Journal of Clinical Investigation|February 24, 2015
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cyclingKate Baker, Sarah L Gordon, Detelina Grozeva, et al.
Mayo Clinic Proceedings|July 2, 2019
Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained CytopeniasAbhishek A Mangaonkar, Alejandro Ferrer, Filippo Pinto E Vairo, et al.
Disease Models & Mechanisms|April 26, 2014
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeletonSarah M Carpanini, Lisa McKie, Derek Thomson, et al.
European Journal of Human Genetics : EJHG|August 12, 2018
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variantsNicole J Boczek, Katharina Hopp, Lacey Benoit, et al.
Orphanet Journal of Rare Diseases|May 22, 2026
Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapiesNicole Nolen, Annemieke Aartsma-Rus, Christine Caneva, et al.
The Journal of Biological Chemistry|January 7, 2017
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPL<i>X</i> Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein FoldingPatrick R Blackburn, Alexander Tischer, Michael T Zimmermann, et al.
Scientific Reports|May 17, 2024
Radiation-induced alteration of apatite on the surface of Mars: first in situ observations with SuperCam Raman onboard PerseveranceE Clavé, O Beyssac, S Bernard, et al.
Neurology. Genetics|September 11, 2025
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of <i>LMNB1</i>-Related Autosomal Dominant LeukodystrophyRadhika Dhamija, W Oliver Tobin, Pietro Cortelli, et al.
European Journal of Human Genetics : EJHG|April 13, 2019
Variants in DOCK3 cause developmental delay and hypotoniaKimberly Wiltrout, Alejandro Ferrer, Ingrid van de Laar, et al.
Pageof 25