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

G Brunner

Showing results (431-440 of 727) with videos related to

Pageof 73
Sort By:
Journal of Medical Genetics|November 25, 2003
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotypeD Beltrán-Valero de Bernabé, H van Bokhoven, E van Beusekom, et al.
Human Mutation|September 10, 2019
Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculatureChantal Kerkhofs, Servi J C Stevens, Saul N Faust, et al.
Journal of Medical Genetics|June 19, 2002
Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10B Van Der Zwaag, H T F M Verzijl, D Beltran-Valero De Bernabe, et al.
European Journal of Human Genetics : EJHG|March 27, 2021
Correction: Long-read trio sequencing of individuals with unsolved intellectual disabilityMarc Pauper, Erdi Kucuk, Aaron M Wenger, et al.
European Journal of Human Genetics : EJHG|December 1, 2020
Long-read trio sequencing of individuals with unsolved intellectual disabilityMarc Pauper, Erdi Kucuk, Aaron M Wenger, et al.
Annals of the Rheumatic Diseases|August 13, 2014
Estimation of heritability of different outcomes for genetic studies of TNFi response in patients with rheumatoid arthritisMaša Umićević Mirkov, Luc Janss, Sita H Vermeulen, et al.
Genome Research|July 16, 2010
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15Andrew J Sharp, Eugenia Migliavacca, Yann Dupre, et al.
European Journal of Human Genetics : EJHG|November 7, 2013
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndromeSonja A de Munnik, Sixto García-Miñaúr, Alexander Hoischen, et al.
Circulation|September 21, 2020
Distinct Cardiac Transcriptomic Clustering in Titin and Lamin A/C-Associated Dilated Cardiomyopathy PatientsJob A J Verdonschot, Kasper W J Derks, Mark R Hazebroek, et al.
Journal of Medical Genetics|February 24, 2001
Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6A Ion, A H Crosby, H Kremer, et al.
Pageof 73

Showing results (431-440 of 727) with videos related to

Sort By:
Pageof 73
Journal of Medical Genetics|November 25, 2003
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotypeD Beltrán-Valero de Bernabé, H van Bokhoven, E van Beusekom, et al.
Human Mutation|September 10, 2019
Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculatureChantal Kerkhofs, Servi J C Stevens, Saul N Faust, et al.
Journal of Medical Genetics|June 19, 2002
Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10B Van Der Zwaag, H T F M Verzijl, D Beltran-Valero De Bernabe, et al.
European Journal of Human Genetics : EJHG|March 27, 2021
Correction: Long-read trio sequencing of individuals with unsolved intellectual disabilityMarc Pauper, Erdi Kucuk, Aaron M Wenger, et al.
European Journal of Human Genetics : EJHG|December 1, 2020
Long-read trio sequencing of individuals with unsolved intellectual disabilityMarc Pauper, Erdi Kucuk, Aaron M Wenger, et al.
Annals of the Rheumatic Diseases|August 13, 2014
Estimation of heritability of different outcomes for genetic studies of TNFi response in patients with rheumatoid arthritisMaša Umićević Mirkov, Luc Janss, Sita H Vermeulen, et al.
Genome Research|July 16, 2010
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15Andrew J Sharp, Eugenia Migliavacca, Yann Dupre, et al.
European Journal of Human Genetics : EJHG|November 7, 2013
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndromeSonja A de Munnik, Sixto García-Miñaúr, Alexander Hoischen, et al.
Circulation|September 21, 2020
Distinct Cardiac Transcriptomic Clustering in Titin and Lamin A/C-Associated Dilated Cardiomyopathy PatientsJob A J Verdonschot, Kasper W J Derks, Mark R Hazebroek, et al.
Journal of Medical Genetics|February 24, 2001
Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6A Ion, A H Crosby, H Kremer, et al.
Pageof 73