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G Brunner

Showing results (471-480 of 727) with videos related to

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Nature Genetics|September 1, 1997
Mutations in CDMP1 cause autosomal dominant brachydactyly type CA Polinkovsky, N H Robin, J T Thomas, 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.
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.
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.
Clinical Genetics|January 6, 2011
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletionsM H Willemsen, G Beunders, M Callaghan, 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.
Pageof 73

Showing results (471-480 of 727) with videos related to

Sort By:
Pageof 73
Nature Genetics|September 1, 1997
Mutations in CDMP1 cause autosomal dominant brachydactyly type CA Polinkovsky, N H Robin, J T Thomas, 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.
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.
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.
Clinical Genetics|January 6, 2011
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletionsM H Willemsen, G Beunders, M Callaghan, 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.
Pageof 73