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Jeroen Breckpot

Showing results (21-30 of 103) with videos related to

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American Journal of Medical Genetics. Part A|February 10, 2012
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1Jeroen Breckpot, Bernard Thienpont, Marijke Bauters, et al.
European Journal of Medical Genetics|September 13, 2019
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathyTomas Robyns, Jeroen Breckpot, Dieter Nuyens, et al.
Lung|April 11, 2024
Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center StudyNoelia Rodriguez Mier, Martine Jaspers, Evelien Van Hoof, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathyTomas Robyns, Cuno Kuiperi, Jeroen Breckpot, et al.
European Journal of Medical Genetics|September 24, 2009
Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1Bernard Thienpont, Eftychia Dimitriadou, Katerina Theodoropoulos, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 13, 2017
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequenceLore Winters, Evelien Van Hoof, Luc De Catte, et al.
Clinical Dysmorphology|July 21, 2009
Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?Jeroen Breckpot, Bernard Thienpont, Christine Vanhole, et al.
Acta Cardiologica|October 5, 2019
Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in <i>RBM20</i>Tomas Robyns, Rik Willems, Johan Van Cleemput, et al.
Journal of Neurodevelopmental Disorders|November 28, 2025
The importance of intrafamilial cognitive phenotyping by the case of 22q11.2 deletion, 15q11.2 deletion, and families with inherited copy number variants of unknown significanceElise Pelgrims, Laurens Hannes, Ilse Noens, et al.
Heart Rhythm|February 19, 2017
Individualized corrected QT interval is superior to QT interval corrected using the Bazett formula in predicting mutation carriage in families with long QT syndromeTomas Robyns, Rik Willems, Bert Vandenberk, et al.
Pageof 11

Showing results (21-30 of 103) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|February 10, 2012
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1Jeroen Breckpot, Bernard Thienpont, Marijke Bauters, et al.
European Journal of Medical Genetics|September 13, 2019
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathyTomas Robyns, Jeroen Breckpot, Dieter Nuyens, et al.
Lung|April 11, 2024
Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center StudyNoelia Rodriguez Mier, Martine Jaspers, Evelien Van Hoof, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathyTomas Robyns, Cuno Kuiperi, Jeroen Breckpot, et al.
European Journal of Medical Genetics|September 24, 2009
Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1Bernard Thienpont, Eftychia Dimitriadou, Katerina Theodoropoulos, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 13, 2017
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequenceLore Winters, Evelien Van Hoof, Luc De Catte, et al.
Clinical Dysmorphology|July 21, 2009
Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?Jeroen Breckpot, Bernard Thienpont, Christine Vanhole, et al.
Acta Cardiologica|October 5, 2019
Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in <i>RBM20</i>Tomas Robyns, Rik Willems, Johan Van Cleemput, et al.
Journal of Neurodevelopmental Disorders|November 28, 2025
The importance of intrafamilial cognitive phenotyping by the case of 22q11.2 deletion, 15q11.2 deletion, and families with inherited copy number variants of unknown significanceElise Pelgrims, Laurens Hannes, Ilse Noens, et al.
Heart Rhythm|February 19, 2017
Individualized corrected QT interval is superior to QT interval corrected using the Bazett formula in predicting mutation carriage in families with long QT syndromeTomas Robyns, Rik Willems, Bert Vandenberk, et al.
Pageof 11