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Jeroen Breckpot

Showing results (11-20 of 103) with videos related to

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American Journal of Medical Genetics. Part A|March 13, 2026
Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12-Related Developmental DisordersTinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, et al.
Calcified Tissue International|January 3, 2025
The Delicate Balancing of Pros and Cons in the Surgical Management of Hyperparathyroidism in a Young Female with Germline Variant in the CDC73 GeneLotte Steyaert, Karel David, Jeroen Breckpot, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosisGülen Eda Utine, Jeroen Breckpot, Bernard Thienpont, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-SaguenayJeroen Breckpot, Yoshihisa Takiyama, Bernard Thienpont, et al.
Journal of Inherited Metabolic Disease|October 6, 2017
Isolated sulfite oxidase deficiencyHelena Claerhout, Peter Witters, Luc Régal, et al.
Frontiers in Cardiovascular Medicine|May 30, 2023
Individualized QT interval (QTi) is a powerful diagnostic tool in long QT syndrome: results from a large validation studyTomas Robyns, Dieter Nuyens, Bert Vandenberk, et al.
Fetal Diagnosis and Therapy|February 17, 2026
Hemoglobin Bart's disease and the Agrinio mutation: A case report of successful fetal interventionKobe Haenen, Emma Van den Eede, Jeroen Breckpot, et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc|May 1, 2018
Genotype-phenotype relationship and risk stratification in loss-of-function SCN5A mutation carriersTomas Robyns, Dieter Nuyens, Bert Vandenberk, et al.
American Journal of Medical Genetics. Part A|May 2, 2023
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestaltElise Pelgrims, Sally Ann Lynch, Laurens Hannes, et al.
Scientific Reports|January 31, 2025
Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart diseaseMarcellino Verbeke, Laurens Hannes, Koen Devriendt, et al.
Pageof 11

Showing results (11-20 of 103) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|March 13, 2026
Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12-Related Developmental DisordersTinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, et al.
Calcified Tissue International|January 3, 2025
The Delicate Balancing of Pros and Cons in the Surgical Management of Hyperparathyroidism in a Young Female with Germline Variant in the CDC73 GeneLotte Steyaert, Karel David, Jeroen Breckpot, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosisGülen Eda Utine, Jeroen Breckpot, Bernard Thienpont, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-SaguenayJeroen Breckpot, Yoshihisa Takiyama, Bernard Thienpont, et al.
Journal of Inherited Metabolic Disease|October 6, 2017
Isolated sulfite oxidase deficiencyHelena Claerhout, Peter Witters, Luc Régal, et al.
Frontiers in Cardiovascular Medicine|May 30, 2023
Individualized QT interval (QTi) is a powerful diagnostic tool in long QT syndrome: results from a large validation studyTomas Robyns, Dieter Nuyens, Bert Vandenberk, et al.
Fetal Diagnosis and Therapy|February 17, 2026
Hemoglobin Bart's disease and the Agrinio mutation: A case report of successful fetal interventionKobe Haenen, Emma Van den Eede, Jeroen Breckpot, et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc|May 1, 2018
Genotype-phenotype relationship and risk stratification in loss-of-function SCN5A mutation carriersTomas Robyns, Dieter Nuyens, Bert Vandenberk, et al.
American Journal of Medical Genetics. Part A|May 2, 2023
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestaltElise Pelgrims, Sally Ann Lynch, Laurens Hannes, et al.
Scientific Reports|January 31, 2025
Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart diseaseMarcellino Verbeke, Laurens Hannes, Koen Devriendt, et al.
Pageof 11