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Clement Y Chow

Showing results (31-40 of 41) with videos related to

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Plos Genetics|September 27, 2022
A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stressHans M Dalton, Raghuvir Viswanatha, Roderick Brathwaite, et al.
The Journal of Clinical Endocrinology and Metabolism|March 4, 2023
DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in OogenesisErica Boiman Johnstone, Bushra Gorsi, Emily Coelho, et al.
The EMBO Journal|November 28, 2008
VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouseNatsuko Jin, Clement Y Chow, Li Liu, et al.
Nature|June 19, 2007
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4JClement Y Chow, Yanling Zhang, James J Dowling, et al.
Elife|December 14, 2020
A <i>Drosophila</i> screen identifies NKCC1 as a modifier of NGLY1 deficiencyDana M Talsness, Katie G Owings, Emily Coelho, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 25, 2007
Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in miceYanling Zhang, Sergey N Zolov, Clement Y Chow, et al.
Plos Genetics|June 10, 2011
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4JGuy M Lenk, Cole J Ferguson, Clement Y Chow, et al.
American Journal of Human Genetics|January 3, 2009
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALSClement Y Chow, John E Landers, Sarah K Bergren, et al.
The Journal of Clinical Endocrinology and Metabolism|October 31, 2021
Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian InsufficiencyBushra Gorsi, Edgar Hernandez, Marvin Barry Moore, et al.
NPJ Genomic Medicine|March 23, 2025
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unitSabrina Malone Jenkins, Rachel N Palmquist, Barry Moore, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
Plos Genetics|September 27, 2022
A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stressHans M Dalton, Raghuvir Viswanatha, Roderick Brathwaite, et al.
The Journal of Clinical Endocrinology and Metabolism|March 4, 2023
DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in OogenesisErica Boiman Johnstone, Bushra Gorsi, Emily Coelho, et al.
The EMBO Journal|November 28, 2008
VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouseNatsuko Jin, Clement Y Chow, Li Liu, et al.
Nature|June 19, 2007
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4JClement Y Chow, Yanling Zhang, James J Dowling, et al.
Elife|December 14, 2020
A <i>Drosophila</i> screen identifies NKCC1 as a modifier of NGLY1 deficiencyDana M Talsness, Katie G Owings, Emily Coelho, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 25, 2007
Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in miceYanling Zhang, Sergey N Zolov, Clement Y Chow, et al.
Plos Genetics|June 10, 2011
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4JGuy M Lenk, Cole J Ferguson, Clement Y Chow, et al.
American Journal of Human Genetics|January 3, 2009
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALSClement Y Chow, John E Landers, Sarah K Bergren, et al.
The Journal of Clinical Endocrinology and Metabolism|October 31, 2021
Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian InsufficiencyBushra Gorsi, Edgar Hernandez, Marvin Barry Moore, et al.
NPJ Genomic Medicine|March 23, 2025
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unitSabrina Malone Jenkins, Rachel N Palmquist, Barry Moore, et al.
Pageof 5