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Caroline Rooryck

Showing results (31-40 of 124) with videos related to

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European Heart Journal. Cardiovascular Imaging|March 23, 2017
Upright treadmill vs. semi-supine bicycle exercise echocardiography to provoke obstruction in symptomatic hypertrophic cardiomyopathy: a pilot studyPatricia Reant, Maxence Dufour, Jerome Peyrou, et al.
European Journal of Human Genetics : EJHG|October 31, 2018
Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architectureAurélien Trimouille, Angèle Tingaud-Sequeira, Perrine Pennamen, et al.
The International Journal of Cardiovascular Imaging|March 1, 2018
Characterization of hypertrophic cardiomyopathy according to global, regional, and multi-layer longitudinal strain analysis, and prediction of sudden cardiac deathMarie-Philippe Vergé, Hubert Cochet, Amélie Reynaud, et al.
European Journal of Medical Genetics|May 5, 2011
A 17q12 chromosomal duplication associated with renal disease and esophageal atresiaStanislas Faguer, Nicolas Chassaing, Flavio Bandin, et al.
Clinical Dysmorphology|December 6, 2008
Hallerman-Streiff-like syndrome presenting with laterality and cardiac defectsFanny Morice-Picard, Sandrine Marlin, Caroline Rooryck, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
A novel de novo mutation in MYT1, the unique OAVS gene identified so farMarie Berenguer, Angele Tingaud-Sequeira, Mileny Colovati, et al.
European Journal of Human Genetics : EJHG|October 21, 2016
Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotypeFanny Morice-Picard, Giovanni Benard, Hamid R Rezvani, et al.
American Journal of Medical Genetics. Part A|November 16, 2010
Brachydactyly type A1 with short humerus and associated skeletal featuresDidier Lacombe, Marie-Ange Delrue, Caroline Rooryck, et al.
Journal of Autism and Developmental Disorders|April 8, 2009
Socio-behavioral characteristics of children with Rubinstein-Taybi syndromeCédric Galéra, Emmanuelle Taupiac, Sonia Fraisse, et al.
Pigment Cell & Melanoma Research|January 19, 2018
Molecular characterization of a series of 990 index patients with albinismEulalie Lasseaux, Claudio Plaisant, Vincent Michaud, et al.
Pageof 13

Showing results (31-40 of 124) with videos related to

Sort By:
Pageof 13
European Heart Journal. Cardiovascular Imaging|March 23, 2017
Upright treadmill vs. semi-supine bicycle exercise echocardiography to provoke obstruction in symptomatic hypertrophic cardiomyopathy: a pilot studyPatricia Reant, Maxence Dufour, Jerome Peyrou, et al.
European Journal of Human Genetics : EJHG|October 31, 2018
Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architectureAurélien Trimouille, Angèle Tingaud-Sequeira, Perrine Pennamen, et al.
The International Journal of Cardiovascular Imaging|March 1, 2018
Characterization of hypertrophic cardiomyopathy according to global, regional, and multi-layer longitudinal strain analysis, and prediction of sudden cardiac deathMarie-Philippe Vergé, Hubert Cochet, Amélie Reynaud, et al.
European Journal of Medical Genetics|May 5, 2011
A 17q12 chromosomal duplication associated with renal disease and esophageal atresiaStanislas Faguer, Nicolas Chassaing, Flavio Bandin, et al.
Clinical Dysmorphology|December 6, 2008
Hallerman-Streiff-like syndrome presenting with laterality and cardiac defectsFanny Morice-Picard, Sandrine Marlin, Caroline Rooryck, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
A novel de novo mutation in MYT1, the unique OAVS gene identified so farMarie Berenguer, Angele Tingaud-Sequeira, Mileny Colovati, et al.
European Journal of Human Genetics : EJHG|October 21, 2016
Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotypeFanny Morice-Picard, Giovanni Benard, Hamid R Rezvani, et al.
American Journal of Medical Genetics. Part A|November 16, 2010
Brachydactyly type A1 with short humerus and associated skeletal featuresDidier Lacombe, Marie-Ange Delrue, Caroline Rooryck, et al.
Journal of Autism and Developmental Disorders|April 8, 2009
Socio-behavioral characteristics of children with Rubinstein-Taybi syndromeCédric Galéra, Emmanuelle Taupiac, Sonia Fraisse, et al.
Pigment Cell & Melanoma Research|January 19, 2018
Molecular characterization of a series of 990 index patients with albinismEulalie Lasseaux, Claudio Plaisant, Vincent Michaud, et al.
Pageof 13