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E Schaffer

Showing results (241-250 of 250) with videos related to

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Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids|May 4, 2019
2-Hydroxypropyl-β-cyclodextrin is the active component in a triple combination formulation for treatment of Niemann-Pick C1 diseaseJessica Davidson, Elizabeth Molitor, Samantha Moores, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|April 4, 2013
Prespecified candidate biomarkers identify follicular lymphoma patients who achieved longer progression-free survival with bortezomib-rituximab versus rituximabBertrand Coiffier, Weimin Li, Erin D Henitz, et al.
Nature Communications|February 22, 2024
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability SyndromeElizabeth A Werren, Geneva R LaForce, Anshika Srivastava, et al.
Science Translational Medicine|June 16, 2012
Exome sequencing can improve diagnosis and alter patient managementTracy J Dixon-Salazar, Jennifer L Silhavy, Nitin Udpa, et al.
Cell|April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationAshleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.
Physical Review Letters|October 5, 2025
Search for Millicharged Particles in Proton-Proton Collisions at sqrt[s]=13.6  TeVS Alcott, Z Bhatti, J Brooke, et al.
Neuron|December 19, 2014
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitorsKetu Mishra-Gorur, Ahmet Okay Çağlayan, Ashleigh E Schaffer, et al.
Nature Genetics|July 18, 2018
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migrationAshleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, et al.
Nature Genetics|April 8, 2015
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionNaiara Akizu, Vincent Cantagrel, Maha S Zaki, et al.
Nature Genetics|January 17, 2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingRea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, et al.
Pageof 25

Showing results (241-250 of 250) with videos related to

Sort By:
Pageof 25
You have reached the last page of results.This site can display upto 250 results.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids|May 4, 2019
2-Hydroxypropyl-β-cyclodextrin is the active component in a triple combination formulation for treatment of Niemann-Pick C1 diseaseJessica Davidson, Elizabeth Molitor, Samantha Moores, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|April 4, 2013
Prespecified candidate biomarkers identify follicular lymphoma patients who achieved longer progression-free survival with bortezomib-rituximab versus rituximabBertrand Coiffier, Weimin Li, Erin D Henitz, et al.
Nature Communications|February 22, 2024
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability SyndromeElizabeth A Werren, Geneva R LaForce, Anshika Srivastava, et al.
Science Translational Medicine|June 16, 2012
Exome sequencing can improve diagnosis and alter patient managementTracy J Dixon-Salazar, Jennifer L Silhavy, Nitin Udpa, et al.
Cell|April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationAshleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.
Physical Review Letters|October 5, 2025
Search for Millicharged Particles in Proton-Proton Collisions at sqrt[s]=13.6  TeVS Alcott, Z Bhatti, J Brooke, et al.
Neuron|December 19, 2014
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitorsKetu Mishra-Gorur, Ahmet Okay Çağlayan, Ashleigh E Schaffer, et al.
Nature Genetics|July 18, 2018
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migrationAshleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, et al.
Nature Genetics|April 8, 2015
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionNaiara Akizu, Vincent Cantagrel, Maha S Zaki, et al.
Nature Genetics|January 17, 2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingRea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, et al.
Pageof 25