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Han G Brunner

Showing results (111-120 of 318) with videos related to

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Circulation. Heart Failure|March 16, 2018
Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated CardiomyopathyMark R Hazebroek, Ingrid Krapels, Job Verdonschot, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Early presentation of cystic kidneys in a family with a homozygous INVS mutationMachteld M Oud, Bregje W van Bon, Ernie M H F Bongers, et al.
Human Reproduction (Oxford, England)|September 23, 2022
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testingWanwisa van Dijk, Kasper Derks, Marion Drüsedau, et al.
Circulation. Heart Failure|December 21, 2018
Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated CardiomyopathyJob A J Verdonschot, Mark R Hazebroek, Ping Wang, et al.
Journal of Cardiac Failure|May 25, 2023
Left Atrial Function in Patients with Titin CardiomyopathyMichiel T H M Henkens, Anne G Raafs, Tim Vanloon, et al.
European Journal of Human Genetics : EJHG|October 26, 2021
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individualsVyne van der Schoot, Lonneke Haer-Wigman, Ilse Feenstra, et al.
Genome Medicine|May 9, 2023
Comprehensive de novo mutation discovery with HiFi long-read sequencingErdi Kucuk, Bart P G H van der Sanden, Luke O'Gorman, et al.
American Journal of Human Genetics|July 11, 2006
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeTjitske Kleefstra, Han G Brunner, Jeanne Amiel, et al.
American Journal of Medical Genetics. Part A|February 9, 2012
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)Miles D Thompson, Tony Roscioli, Carlo Marcelis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2020
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalitiesLot Snijders Blok, Arianna Vino, Joery den Hoed, et al.
Pageof 32

Showing results (111-120 of 318) with videos related to

Sort By:
Pageof 32
Circulation. Heart Failure|March 16, 2018
Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated CardiomyopathyMark R Hazebroek, Ingrid Krapels, Job Verdonschot, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Early presentation of cystic kidneys in a family with a homozygous INVS mutationMachteld M Oud, Bregje W van Bon, Ernie M H F Bongers, et al.
Human Reproduction (Oxford, England)|September 23, 2022
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testingWanwisa van Dijk, Kasper Derks, Marion Drüsedau, et al.
Circulation. Heart Failure|December 21, 2018
Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated CardiomyopathyJob A J Verdonschot, Mark R Hazebroek, Ping Wang, et al.
Journal of Cardiac Failure|May 25, 2023
Left Atrial Function in Patients with Titin CardiomyopathyMichiel T H M Henkens, Anne G Raafs, Tim Vanloon, et al.
European Journal of Human Genetics : EJHG|October 26, 2021
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individualsVyne van der Schoot, Lonneke Haer-Wigman, Ilse Feenstra, et al.
Genome Medicine|May 9, 2023
Comprehensive de novo mutation discovery with HiFi long-read sequencingErdi Kucuk, Bart P G H van der Sanden, Luke O'Gorman, et al.
American Journal of Human Genetics|July 11, 2006
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeTjitske Kleefstra, Han G Brunner, Jeanne Amiel, et al.
American Journal of Medical Genetics. Part A|February 9, 2012
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)Miles D Thompson, Tony Roscioli, Carlo Marcelis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2020
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalitiesLot Snijders Blok, Arianna Vino, Joery den Hoed, et al.
Pageof 32