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J van Ham

Showing results (121-130 of 131) with videos related to

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American Journal of Human Genetics|December 5, 2025
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxiaJames Fasham, Julia Rankin, Rachel Schot, et al.
Genome Biology|March 10, 2017
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genesHongsheng Gui, Duco Schriemer, William W Cheng, et al.
European Journal of Human Genetics : EJHG|October 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision makingDaphne J Smits, Federico Ferraro, Mark Drost, et al.
The Plant Journal : for Cell and Molecular Biology|July 22, 2014
Exploring genetic variation in the tomato (Solanum section Lycopersicon) clade by whole-genome sequencing, Saulo Aflitos, Elio Schijlen, et al.
Acta Neuropathologica|April 29, 2023
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical modelRuizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, et al.
Brain : a Journal of Neurology|March 25, 2021
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane traffickingLeslie E Sanderson, Kristina Lanko, Maysoon Alsagob, et al.
HGG Advances|September 24, 2025
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction toolsMark Drost, Jordy Dekker, Federico Ferraro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SETYuwei Shi, Ananilia Silva, Christophe Debuy, et al.
Plos Genetics|June 23, 2011
Finished genome of the fungal wheat pathogen Mycosphaerella graminicola reveals dispensome structure, chromosome plasticity, and stealth pathogenesisStephen B Goodwin, Sarrah Ben M'barek, Braham Dhillon, et al.
Acta Neuropathologica|December 11, 2019
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesElena Perenthaler, Anita Nikoncuk, Soheil Yousefi, et al.
Pageof 14

Showing results (121-130 of 131) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|December 5, 2025
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxiaJames Fasham, Julia Rankin, Rachel Schot, et al.
Genome Biology|March 10, 2017
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genesHongsheng Gui, Duco Schriemer, William W Cheng, et al.
European Journal of Human Genetics : EJHG|October 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision makingDaphne J Smits, Federico Ferraro, Mark Drost, et al.
The Plant Journal : for Cell and Molecular Biology|July 22, 2014
Exploring genetic variation in the tomato (Solanum section Lycopersicon) clade by whole-genome sequencing, Saulo Aflitos, Elio Schijlen, et al.
Acta Neuropathologica|April 29, 2023
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical modelRuizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, et al.
Brain : a Journal of Neurology|March 25, 2021
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane traffickingLeslie E Sanderson, Kristina Lanko, Maysoon Alsagob, et al.
HGG Advances|September 24, 2025
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction toolsMark Drost, Jordy Dekker, Federico Ferraro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SETYuwei Shi, Ananilia Silva, Christophe Debuy, et al.
Plos Genetics|June 23, 2011
Finished genome of the fungal wheat pathogen Mycosphaerella graminicola reveals dispensome structure, chromosome plasticity, and stealth pathogenesisStephen B Goodwin, Sarrah Ben M'barek, Braham Dhillon, et al.
Acta Neuropathologica|December 11, 2019
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesElena Perenthaler, Anita Nikoncuk, Soheil Yousefi, et al.
Pageof 14