Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Han G Brunner

Showing results (181-190 of 318) with videos related to

Pageof 32
Sort By:
American Journal of Human Genetics|March 31, 2015
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndromeJanson White, Juliana F Mazzeu, Alexander Hoischen, et al.
Orphanet Journal of Rare Diseases|July 25, 2013
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutationsClaudia Voigt, André Mégarbané, Kornelia Neveling, et al.
Nature Genetics|August 10, 2004
Mutations in a new member of the chromodomain gene family cause CHARGE syndromeLisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, et al.
European Heart Journal|January 30, 2018
Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmiasJob A J Verdonschot, Mark R Hazebroek, Kasper W J Derks, et al.
Clinical Genetics|February 22, 2024
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profileDmitrijs Rots, Kathleen Rooney, Raissa Relator, et al.
American Journal of Human Genetics|April 23, 2013
Mutations in ANTXR1 cause GAPO syndromeViktor Stránecký, Alexander Hoischen, Hana Hartmannová, et al.
American Journal of Human Genetics|May 22, 2012
Cantú syndrome is caused by mutations in ABCC9Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, et al.
Nature Genetics|June 15, 2007
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeHeleen H Arts, Dan Doherty, Sylvia E C van Beersum, et al.
Epilepsia|December 8, 2018
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disabilityFrancesca M Snoeijen-Schouwenaars, Jans S van Ool, Judith S Verhoeven, et al.
Acta Neuropathologica|December 17, 2021
DTYMK is essential for genome integrity and neuronal survivalJo M Vanoevelen, Jörgen Bierau, Janine C Grashorn, et al.
Pageof 32

Showing results (181-190 of 318) with videos related to

Sort By:
Pageof 32
American Journal of Human Genetics|March 31, 2015
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndromeJanson White, Juliana F Mazzeu, Alexander Hoischen, et al.
Orphanet Journal of Rare Diseases|July 25, 2013
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutationsClaudia Voigt, André Mégarbané, Kornelia Neveling, et al.
Nature Genetics|August 10, 2004
Mutations in a new member of the chromodomain gene family cause CHARGE syndromeLisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, et al.
European Heart Journal|January 30, 2018
Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmiasJob A J Verdonschot, Mark R Hazebroek, Kasper W J Derks, et al.
Clinical Genetics|February 22, 2024
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profileDmitrijs Rots, Kathleen Rooney, Raissa Relator, et al.
American Journal of Human Genetics|April 23, 2013
Mutations in ANTXR1 cause GAPO syndromeViktor Stránecký, Alexander Hoischen, Hana Hartmannová, et al.
American Journal of Human Genetics|May 22, 2012
Cantú syndrome is caused by mutations in ABCC9Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, et al.
Nature Genetics|June 15, 2007
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeHeleen H Arts, Dan Doherty, Sylvia E C van Beersum, et al.
Epilepsia|December 8, 2018
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disabilityFrancesca M Snoeijen-Schouwenaars, Jans S van Ool, Judith S Verhoeven, et al.
Acta Neuropathologica|December 17, 2021
DTYMK is essential for genome integrity and neuronal survivalJo M Vanoevelen, Jörgen Bierau, Janine C Grashorn, et al.
Pageof 32