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Han G Brunner

Showing results (251-260 of 318) with videos related to

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American Journal of Human Genetics|April 2, 2019
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial DysmorphismIllja J Diets, Roos van der Donk, Kristina Baltrunaite, et al.
ESC Heart Failure|February 4, 2022
Improving diagnosis and risk stratification across the ejection fraction spectrum: the Maastricht Cardiomyopathy registryMichiel T H M Henkens, Jerremy Weerts, Job A J Verdonschot, et al.
Birth Defects Research|April 23, 2020
Maternal risk factors for the VACTERL association: A EUROCAT case-control studyRomy van de Putte, Iris A L M van Rooij, Cynthia P Haanappel, et al.
American Journal of Human Genetics|February 3, 2016
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsMargot R F Reijnders, Vasilios Zachariadis, Brooke Latour, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderDavor Lessel, Claudia Schob, Sébastien Küry, et al.
Human Mutation|August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.
Frontiers in Pharmacology|November 28, 2022
<i>SLC7A8</i> coding for LAT2 is associated with early disease progression in osteosarcoma and transports doxorubicinEvelien G E Hurkmans, Jan B Koenderink, Jeroen J M W van den Heuvel, et al.
Pediatric Research|September 10, 2019
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based studyRomy van de Putte, Iris A L M van Rooij, Carlo L M Marcelis, et al.
Annals of the Rheumatic Diseases|December 13, 2012
Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritisMaša Umiċeviċ Mirkov, Jing Cui, Sita H Vermeulen, et al.
Human Mutation|October 15, 2013
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseasesKornelia Neveling, Ilse Feenstra, Christian Gilissen, et al.
Pageof 32

Showing results (251-260 of 318) with videos related to

Sort By:
Pageof 32
American Journal of Human Genetics|April 2, 2019
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial DysmorphismIllja J Diets, Roos van der Donk, Kristina Baltrunaite, et al.
ESC Heart Failure|February 4, 2022
Improving diagnosis and risk stratification across the ejection fraction spectrum: the Maastricht Cardiomyopathy registryMichiel T H M Henkens, Jerremy Weerts, Job A J Verdonschot, et al.
Birth Defects Research|April 23, 2020
Maternal risk factors for the VACTERL association: A EUROCAT case-control studyRomy van de Putte, Iris A L M van Rooij, Cynthia P Haanappel, et al.
American Journal of Human Genetics|February 3, 2016
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsMargot R F Reijnders, Vasilios Zachariadis, Brooke Latour, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderDavor Lessel, Claudia Schob, Sébastien Küry, et al.
Human Mutation|August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.
Frontiers in Pharmacology|November 28, 2022
<i>SLC7A8</i> coding for LAT2 is associated with early disease progression in osteosarcoma and transports doxorubicinEvelien G E Hurkmans, Jan B Koenderink, Jeroen J M W van den Heuvel, et al.
Pediatric Research|September 10, 2019
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based studyRomy van de Putte, Iris A L M van Rooij, Carlo L M Marcelis, et al.
Annals of the Rheumatic Diseases|December 13, 2012
Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritisMaša Umiċeviċ Mirkov, Jing Cui, Sita H Vermeulen, et al.
Human Mutation|October 15, 2013
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseasesKornelia Neveling, Ilse Feenstra, Christian Gilissen, et al.
Pageof 32