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 (231-240 of 318) with videos related to

Pageof 32
Sort By:
European Heart Journal|October 27, 2015
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriersGodelieve R F Claes, Florence H J van Tienen, Patrick Lindsey, et al.
Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 11, 2007
TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humansBart Ferwerda, Matthew B B McCall, Santos Alonso, et al.
Plos Genetics|July 14, 2011
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Plos Genetics|December 27, 2018
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and MiceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
Human Molecular Genetics|May 17, 2023
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networksMaria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, et al.
American Journal of Human Genetics|July 16, 2019
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental DisorderLot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, et al.
Human Mutation|March 1, 2020
A mutation update for the FLNC gene in myopathies and cardiomyopathiesJob A J Verdonschot, Els K Vanhoutte, Godelieve R F Claes, et al.
Pageof 32

Showing results (231-240 of 318) with videos related to

Sort By:
Pageof 32
European Heart Journal|October 27, 2015
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriersGodelieve R F Claes, Florence H J van Tienen, Patrick Lindsey, et al.
Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 11, 2007
TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humansBart Ferwerda, Matthew B B McCall, Santos Alonso, et al.
Plos Genetics|July 14, 2011
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Plos Genetics|December 27, 2018
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and MiceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
Human Molecular Genetics|May 17, 2023
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networksMaria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, et al.
American Journal of Human Genetics|July 16, 2019
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental DisorderLot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, et al.
Human Mutation|March 1, 2020
A mutation update for the FLNC gene in myopathies and cardiomyopathiesJob A J Verdonschot, Els K Vanhoutte, Godelieve R F Claes, et al.
Pageof 32