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

Erwin Brosens

Showing results (61-70 of 72) with videos related to

Pageof 8
Sort By:
Proceedings of the National Academy of Sciences of the United States of America|March 16, 2017
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and miceDanny Halim, Michael P Wilson, Daniel Oliver, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.
European Journal of Human Genetics : EJHG|July 21, 2016
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistulaErwin Brosens, Florian Marsch, Elisabeth M de Jong, et al.
European Journal of Human Genetics : EJHG|July 11, 2018
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathyJudith M A Verhagen, Job H Veldman, Paul A van der Zwaag, 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.
Plos Genetics|November 5, 2020
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung diseaseTanja Mederer, Stefanie Schmitteckert, Julia Volz, et al.
Plos One|May 29, 2019
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformationsRomy van de Putte, Charlotte H W Wijers, Heiko Reutter, et al.
Kidney International|October 25, 2013
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL associationPawaree Saisawat, Stefan Kohl, Alina C Hilger, et al.
Journal of the American College of Cardiology|February 6, 2016
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric CardiomyopathyRowida Almomani, Judith M A Verhagen, Johanna C Herkert, et al.
American Journal of Human Genetics|September 27, 2024
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variantsLu Qiao, Carrie L Welch, Rebecca Hernan, et al.
Pageof 8

Showing results (61-70 of 72) with videos related to

Sort By:
Pageof 8
Proceedings of the National Academy of Sciences of the United States of America|March 16, 2017
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and miceDanny Halim, Michael P Wilson, Daniel Oliver, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.
European Journal of Human Genetics : EJHG|July 21, 2016
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistulaErwin Brosens, Florian Marsch, Elisabeth M de Jong, et al.
European Journal of Human Genetics : EJHG|July 11, 2018
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathyJudith M A Verhagen, Job H Veldman, Paul A van der Zwaag, 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.
Plos Genetics|November 5, 2020
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung diseaseTanja Mederer, Stefanie Schmitteckert, Julia Volz, et al.
Plos One|May 29, 2019
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformationsRomy van de Putte, Charlotte H W Wijers, Heiko Reutter, et al.
Kidney International|October 25, 2013
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL associationPawaree Saisawat, Stefan Kohl, Alina C Hilger, et al.
Journal of the American College of Cardiology|February 6, 2016
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric CardiomyopathyRowida Almomani, Judith M A Verhagen, Johanna C Herkert, et al.
American Journal of Human Genetics|September 27, 2024
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variantsLu Qiao, Carrie L Welch, Rebecca Hernan, et al.
Pageof 8