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Ivana Mihalek

Showing results (21-30 of 28) with videos related to

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Molecular and Cellular Biology|March 28, 2018
The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent FashionNya D Nelson, Lois M Dodson, Laura Escudero, et al.
Translational Vision Science & Technology|March 17, 2025
Quantifying the Progression of Stargardt Disease in Double-Null ABCA4 Carriers Using Fundus Autofluorescence ImagingIvana Mihalek, Hanna De Bruyn, Tomislav Glavan, et al.
Plos One|December 12, 2017
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failureChristina Y Hung, Barbara Volkmar, James D Baker, et al.
Diagnostics (Basel, Switzerland)|July 27, 2024
The Surviving, Not Thriving, Photoreceptors in Patients with <i>ABCA4</i> Stargardt DiseaseHanna De Bruyn, Megan Johnson, Madelyn Moretti, et al.
Pediatrics|September 12, 2012
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutationsEva Morava, Julia Vodopiutz, Dirk J Lefeber, et al.
American Journal of Medical Genetics. Part A|March 13, 2026
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia SyndromeAya Abu-El-Haija, Allan Bayat, Hanifenur Mancılar, et al.
Journal of Cell Science|September 10, 2010
WLS-dependent secretion of WNT3A requires Ser209 acylation and vacuolar acidificationGary S Coombs, Jia Yu, Claire A Canning, et al.
Epilepsia|January 26, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding regionMcKenna Kelly, Meredith Park, Ivana Mihalek, et al.
Pageof 3

Showing results (21-30 of 28) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 28 results.
Molecular and Cellular Biology|March 28, 2018
The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent FashionNya D Nelson, Lois M Dodson, Laura Escudero, et al.
Translational Vision Science & Technology|March 17, 2025
Quantifying the Progression of Stargardt Disease in Double-Null ABCA4 Carriers Using Fundus Autofluorescence ImagingIvana Mihalek, Hanna De Bruyn, Tomislav Glavan, et al.
Plos One|December 12, 2017
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failureChristina Y Hung, Barbara Volkmar, James D Baker, et al.
Diagnostics (Basel, Switzerland)|July 27, 2024
The Surviving, Not Thriving, Photoreceptors in Patients with <i>ABCA4</i> Stargardt DiseaseHanna De Bruyn, Megan Johnson, Madelyn Moretti, et al.
Pediatrics|September 12, 2012
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutationsEva Morava, Julia Vodopiutz, Dirk J Lefeber, et al.
American Journal of Medical Genetics. Part A|March 13, 2026
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia SyndromeAya Abu-El-Haija, Allan Bayat, Hanifenur Mancılar, et al.
Journal of Cell Science|September 10, 2010
WLS-dependent secretion of WNT3A requires Ser209 acylation and vacuolar acidificationGary S Coombs, Jia Yu, Claire A Canning, et al.
Epilepsia|January 26, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding regionMcKenna Kelly, Meredith Park, Ivana Mihalek, et al.
Pageof 3