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David B Goldstein

Showing results (321-330 of 338) with videos related to

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Annals of Neurology|October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypesMaureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.
The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Nature|August 1, 2008
Large recurrent microdeletions associated with schizophreniaHreinn Stefansson, Dan Rujescu, Sven Cichon, et al.
Nature|September 5, 2023
Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 loadPaul J McLaren, Immacolata Porreca, Gennaro Iaconis, et al.
Nature|August 2, 2023
Africa-specific human genetic variation near CHD1L associates with HIV-1 loadPaul J McLaren, Immacolata Porreca, Gennaro Iaconis, et al.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Science (New York, N.Y.)|February 21, 2015
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathwaysElizabeth T Cirulli, Brittany N Lasseigne, Slavé Petrovski, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Strong protective effect of the <i>APOL1</i> p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney diseaseYask Gupta, David J Friedman, Michelle McNulty, et al.
American Journal of Human Genetics|June 11, 2021
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individualsJack A Kosmicki, Julie E Horowitz, Nilanjana Banerjee, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Pageof 34

Showing results (321-330 of 338) with videos related to

Sort By:
Pageof 34
Annals of Neurology|October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypesMaureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.
The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Nature|August 1, 2008
Large recurrent microdeletions associated with schizophreniaHreinn Stefansson, Dan Rujescu, Sven Cichon, et al.
Nature|September 5, 2023
Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 loadPaul J McLaren, Immacolata Porreca, Gennaro Iaconis, et al.
Nature|August 2, 2023
Africa-specific human genetic variation near CHD1L associates with HIV-1 loadPaul J McLaren, Immacolata Porreca, Gennaro Iaconis, et al.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Science (New York, N.Y.)|February 21, 2015
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathwaysElizabeth T Cirulli, Brittany N Lasseigne, Slavé Petrovski, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Strong protective effect of the <i>APOL1</i> p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney diseaseYask Gupta, David J Friedman, Michelle McNulty, et al.
American Journal of Human Genetics|June 11, 2021
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individualsJack A Kosmicki, Julie E Horowitz, Nilanjana Banerjee, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Pageof 34