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Jeroen Breckpot

Showing results (31-40 of 103) with videos related to

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European Journal of Medical Genetics|November 10, 2011
BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndromeJeroen Breckpot, Léon-Charles Tranchevent, Bernard Thienpont, et al.
Genes|March 29, 2023
Language Profiles of School-Aged Children with 22q11.2 Copy Number VariantsJente Verbesselt, Cynthia B Solot, Ellen Van Den Heuvel, et al.
Genome Medicine|January 9, 2025
Clinical evaluation of long-read sequencing-based episignature detection in developmental disordersMathilde Geysens, Benjamin Huremagic, Erika Souche, et al.
Genome Medicine|March 3, 2010
Collaboratively charting the gene-to-phenotype network of human congenital heart defectsRoland Barriot, Jeroen Breckpot, Bernard Thienpont, et al.
The Journal of Pediatrics|February 9, 2010
Array comparative genomic hybridization as a diagnostic tool for syndromic heart defectsJeroen Breckpot, Bernard Thienpont, Hilde Peeters, et al.
Genome Research|July 22, 2025
Genotype imputation from low-coverage data for medical and population genetic analysesSimone Andrea Biagini, Sara Becelaere, Mio Aerden, et al.
Plos Genetics|January 23, 2018
Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblingsJacoba J Louw, Ricardo Nunes Bastos, Xiaowen Chen, et al.
European Journal of Human Genetics : EJHG|April 9, 2023
Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRIJohanna Jacobs, Lucas Van Aelst, Jeroen Breckpot, et al.
American Journal of Medical Genetics. Part A|May 2, 2015
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defectsYaojuan Jia, Jacoba J Louw, Jeroen Breckpot, et al.
Clinical Immunology (Orlando, Fla.)|October 28, 2023
Biallelic mutations in the CFHR genes underlying atypical hemolytic uremic syndrome in a patient with catastrophic adult-onset Still's disease and recurrent macrophage activation syndrome: A case reportLuna Dillemans, Youri Bekhuis, Albrecht Betrains, et al.
Pageof 11

Showing results (31-40 of 103) with videos related to

Sort By:
Pageof 11
European Journal of Medical Genetics|November 10, 2011
BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndromeJeroen Breckpot, Léon-Charles Tranchevent, Bernard Thienpont, et al.
Genes|March 29, 2023
Language Profiles of School-Aged Children with 22q11.2 Copy Number VariantsJente Verbesselt, Cynthia B Solot, Ellen Van Den Heuvel, et al.
Genome Medicine|January 9, 2025
Clinical evaluation of long-read sequencing-based episignature detection in developmental disordersMathilde Geysens, Benjamin Huremagic, Erika Souche, et al.
Genome Medicine|March 3, 2010
Collaboratively charting the gene-to-phenotype network of human congenital heart defectsRoland Barriot, Jeroen Breckpot, Bernard Thienpont, et al.
The Journal of Pediatrics|February 9, 2010
Array comparative genomic hybridization as a diagnostic tool for syndromic heart defectsJeroen Breckpot, Bernard Thienpont, Hilde Peeters, et al.
Genome Research|July 22, 2025
Genotype imputation from low-coverage data for medical and population genetic analysesSimone Andrea Biagini, Sara Becelaere, Mio Aerden, et al.
Plos Genetics|January 23, 2018
Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblingsJacoba J Louw, Ricardo Nunes Bastos, Xiaowen Chen, et al.
European Journal of Human Genetics : EJHG|April 9, 2023
Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRIJohanna Jacobs, Lucas Van Aelst, Jeroen Breckpot, et al.
American Journal of Medical Genetics. Part A|May 2, 2015
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defectsYaojuan Jia, Jacoba J Louw, Jeroen Breckpot, et al.
Clinical Immunology (Orlando, Fla.)|October 28, 2023
Biallelic mutations in the CFHR genes underlying atypical hemolytic uremic syndrome in a patient with catastrophic adult-onset Still's disease and recurrent macrophage activation syndrome: A case reportLuna Dillemans, Youri Bekhuis, Albrecht Betrains, et al.
Pageof 11