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The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|January 7, 2018
POU6f1 Mediates Neuropeptide-Dependent Plasticity in the Adult BrainCynthia K McClard, Mikhail Y Kochukov, Isabella Herman, et al.
Genome Research|February 26, 2016
Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genesLi Zhao, Yiyun Chen, Amol Onkar Bajaj, et al.
Human Molecular Genetics|February 25, 2016
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosaMingchu Xu, Takeyuki Yamada, Zixi Sun, et al.
Investigative Ophthalmology & Visual Science|June 13, 2015
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular InvolvementMingchu Xu, Violet Gelowani, Aiden Eblimit, et al.
The Journal of Cell Biology|June 15, 2018
SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting ciliumRachayata Dharmat, Aiden Eblimit, Michael A Robichaux, et al.
Human Molecular Genetics|May 6, 2017
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein traffickingSmriti A Agrawal, Thomas Burgoyne, Aiden Eblimit, et al.
The Journal of Clinical Investigation|June 30, 2020
A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transferLakshya Bajaj, Jaiprakash Sharma, Alberto di Ronza, et al.
Human Molecular Genetics|November 16, 2014
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaAiden Eblimit, Thanh-Minh T Nguyen, Yiyun Chen, et al.
American Journal of Human Genetics|November 28, 2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaGavin Arno, Smriti A Agrawal, Aiden Eblimit, et al.
American Journal of Human Genetics|March 14, 2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental AnomaliesMingchu Xu, Yajing Angela Xie, Hana Abouzeid, et al.
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