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J Taft

Showing results (271-280 of 318) with videos related to

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American Journal of Human Genetics|October 2, 2018
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic EncephalopathyThi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen M Wigby, et al.
Nature Genetics|November 25, 2014
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsyCas Simons, Lachlan D Rash, Joanna Crawford, et al.
Nature Genetics|February 26, 2015
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsyCas Simons, Lachlan D Rash, Joanna Crawford, et al.
American Journal of Human Genetics|April 16, 2013
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellumCas Simons, Nicole I Wolf, Nathan McNeil, et al.
Neurology|December 14, 2005
Tolerance of high-dose (3,000 mg/day) coenzyme Q10 in ALSK L Ferrante, J Shefner, H Zhang, et al.
Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.
The Lancet. Neurology|February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation studyKristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
American Journal of Human Genetics|March 31, 2015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectCas Simons, Laurie B Griffin, Guy Helman, et al.
Genome Biology|April 30, 2020
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing dataEgor Dolzhenko, Mark F Bennett, Phillip A Richmond, et al.
HGG Advances|October 1, 2025
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorderBrianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, et al.
Pageof 32

Showing results (271-280 of 318) with videos related to

Sort By:
Pageof 32
American Journal of Human Genetics|October 2, 2018
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic EncephalopathyThi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen M Wigby, et al.
Nature Genetics|November 25, 2014
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsyCas Simons, Lachlan D Rash, Joanna Crawford, et al.
Nature Genetics|February 26, 2015
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsyCas Simons, Lachlan D Rash, Joanna Crawford, et al.
American Journal of Human Genetics|April 16, 2013
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellumCas Simons, Nicole I Wolf, Nathan McNeil, et al.
Neurology|December 14, 2005
Tolerance of high-dose (3,000 mg/day) coenzyme Q10 in ALSK L Ferrante, J Shefner, H Zhang, et al.
Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.
The Lancet. Neurology|February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation studyKristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
American Journal of Human Genetics|March 31, 2015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectCas Simons, Laurie B Griffin, Guy Helman, et al.
Genome Biology|April 30, 2020
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing dataEgor Dolzhenko, Mark F Bennett, Phillip A Richmond, et al.
HGG Advances|October 1, 2025
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorderBrianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, et al.
Pageof 32