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 (221-230 of 318) with videos related to

Pageof 32
Sort By:
European Journal of Human Genetics : EJHG|August 14, 2015
Further delineation of the KBG syndrome caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.
European Journal of Human Genetics : EJHG|September 16, 2022
The performance of genome sequencing as a first-tier test for neurodevelopmental disordersBart P G H van der Sanden, Gaby Schobers, Jordi Corominas Galbany, et al.
Frontiers in Pediatrics|July 14, 2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL AnomaliesRomy van de Putte, Gabriel C Dworschak, Erwin Brosens, et al.
European Journal of Human Genetics : EJHG|October 8, 2009
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotypeBregje W M van Bon, David A Koolen, Louise Brueton, et al.
Nature Genetics|May 1, 2012
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndromeDavid A Koolen, Jamie M Kramer, Kornelia Neveling, et al.
Nature Genetics|July 10, 2012
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysmMark E Lindsay, Dorien Schepers, Nikhita Ajit Bolar, et al.
Genome Medicine|February 14, 2024
Genome sequencing as a generic diagnostic strategy for rare diseaseGaby Schobers, Ronny Derks, Amber den Ouden, et al.
American Journal of Human Genetics|August 30, 2016
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeRicky S Joshi, Paras Garg, Noah Zaitlen, et al.
JACC. Heart Failure|October 19, 2024
Genetic Landscape of Patients With Dilated Cardiomyopathy and a Systemic Immune-Mediated DiseaseSophie L V M Stroeks, Michiel T H M Henkens, Fernando Dominguez, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
The phenotype of recurrent 10q22q23 deletions and duplicationsBregje W M van Bon, Jorune Balciuniene, Gary Fruhman, et al.
Pageof 32

Showing results (221-230 of 318) with videos related to

Sort By:
Pageof 32
European Journal of Human Genetics : EJHG|August 14, 2015
Further delineation of the KBG syndrome caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.
European Journal of Human Genetics : EJHG|September 16, 2022
The performance of genome sequencing as a first-tier test for neurodevelopmental disordersBart P G H van der Sanden, Gaby Schobers, Jordi Corominas Galbany, et al.
Frontiers in Pediatrics|July 14, 2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL AnomaliesRomy van de Putte, Gabriel C Dworschak, Erwin Brosens, et al.
European Journal of Human Genetics : EJHG|October 8, 2009
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotypeBregje W M van Bon, David A Koolen, Louise Brueton, et al.
Nature Genetics|May 1, 2012
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndromeDavid A Koolen, Jamie M Kramer, Kornelia Neveling, et al.
Nature Genetics|July 10, 2012
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysmMark E Lindsay, Dorien Schepers, Nikhita Ajit Bolar, et al.
Genome Medicine|February 14, 2024
Genome sequencing as a generic diagnostic strategy for rare diseaseGaby Schobers, Ronny Derks, Amber den Ouden, et al.
American Journal of Human Genetics|August 30, 2016
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeRicky S Joshi, Paras Garg, Noah Zaitlen, et al.
JACC. Heart Failure|October 19, 2024
Genetic Landscape of Patients With Dilated Cardiomyopathy and a Systemic Immune-Mediated DiseaseSophie L V M Stroeks, Michiel T H M Henkens, Fernando Dominguez, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
The phenotype of recurrent 10q22q23 deletions and duplicationsBregje W M van Bon, Jorune Balciuniene, Gary Fruhman, et al.
Pageof 32