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Showing results (81-90 of 105) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2018
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degenerationFarzad Jamshidi, Emily M Place, Sudeep Mehrotra, et al.
NPJ Genomic Medicine|May 27, 2024
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal diseaseBlake M Hauser, Yuyang Luo, Anusha Nathan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerationsErin Zampaglione, Benyam Kinde, Emily M Place, et al.
Cold Spring Harbor Molecular Case Studies|February 5, 2020
Expanding the phenotypic spectrum in RDH12-associated retinal diseaseHilary A Scott, Emily M Place, Kevin Ferenchak, et al.
NPJ Genomic Medicine|April 10, 2026
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severityRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Nature|July 26, 2019
A mutation-independent approach for muscular dystrophy via upregulation of a modifier geneDwi U Kemaladewi, Prabhpreet S Bassi, Steven Erwood, et al.
Research Square|February 26, 2024
Coding and non-coding variants in the ciliopathy gene <i>CFAP410</i> cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)Erin Zampaglione, Matthew Maher, Emily M Place, et al.
Nature Medicine|July 18, 2017
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanismDwi U Kemaladewi, Eleonora Maino, Elzbieta Hyatt, et al.
Spine Deformity|December 9, 2016
Results of the Scoliosis Research Society Morbidity and Mortality Database 2009-2012: A Report From the Morbidity and Mortality CommitteeDouglas C Burton, Brandon B Carlson, Howard M Place, et al.
Pageof 11

Showing results (81-90 of 105) with videos related to

Sort By:
Pageof 11
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2018
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degenerationFarzad Jamshidi, Emily M Place, Sudeep Mehrotra, et al.
NPJ Genomic Medicine|May 27, 2024
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal diseaseBlake M Hauser, Yuyang Luo, Anusha Nathan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerationsErin Zampaglione, Benyam Kinde, Emily M Place, et al.
Cold Spring Harbor Molecular Case Studies|February 5, 2020
Expanding the phenotypic spectrum in RDH12-associated retinal diseaseHilary A Scott, Emily M Place, Kevin Ferenchak, et al.
NPJ Genomic Medicine|April 10, 2026
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severityRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Nature|July 26, 2019
A mutation-independent approach for muscular dystrophy via upregulation of a modifier geneDwi U Kemaladewi, Prabhpreet S Bassi, Steven Erwood, et al.
Research Square|February 26, 2024
Coding and non-coding variants in the ciliopathy gene <i>CFAP410</i> cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)Erin Zampaglione, Matthew Maher, Emily M Place, et al.
Nature Medicine|July 18, 2017
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanismDwi U Kemaladewi, Eleonora Maino, Elzbieta Hyatt, et al.
Spine Deformity|December 9, 2016
Results of the Scoliosis Research Society Morbidity and Mortality Database 2009-2012: A Report From the Morbidity and Mortality CommitteeDouglas C Burton, Brandon B Carlson, Howard M Place, et al.
Pageof 11