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Caroline Rooryck

Showing results (41-50 of 124) with videos related to

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The International Journal of Cardiovascular Imaging|June 22, 2016
Morphological and functional abnormalities pattern in hypertrophy-free HCM mutation carriers detected with echocardiographyJérôme Peyrou, Patricia Réant, Amélie Reynaud, et al.
Human Genetics|January 21, 2021
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrumAngèle Tingaud-Sequeira, Aurélien Trimouille, Manju Salaria, et al.
Clinical Genetics|July 22, 2025
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number VariantsCéline Pebrel-Richard, Paul Kuentz, Anne-Claude Tabet, et al.
Pediatric Cardiology|April 30, 2016
Cardiac Contractility Modulation in a Model of Repaired Tetralogy of Fallot: A Sheep ModelFrancois Roubertie, Romain Eschalier, Adlane Zemmoura, et al.
The International Journal of Cardiovascular Imaging|May 10, 2020
Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mappingPatricia Réant, Emilie Testet, Amélie Reynaud, et al.
Clinical Genetics|May 20, 2023
Morphological and genetic causes of fetal cardiomyopathiesEva Kohaut, Flavie Ader, Caroline Rooryck, et al.
Clinical Dysmorphology|August 12, 2017
First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2Marie-Laure Vuillaume, Anna-Gaelle Valard, Nada Houcinat, et al.
European Journal of Medical Genetics|February 1, 2011
A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritisStanislas Faguer, Annachiara De Sandre-Giovannoli, Michèle Hemery, et al.
Pigment Cell & Melanoma Research|August 7, 2015
Albinism in a patient with mutations at both the OA1 and OCA3 lociFanny Morice-Picard, Eulalie Lasseaux, Claudio Plaisant, et al.
Human Genetics|November 19, 2010
High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patientsCaroline Rooryck, Fanny Morice-Picard, Eulalie Lasseaux, et al.
Pageof 13

Showing results (41-50 of 124) with videos related to

Sort By:
Pageof 13
The International Journal of Cardiovascular Imaging|June 22, 2016
Morphological and functional abnormalities pattern in hypertrophy-free HCM mutation carriers detected with echocardiographyJérôme Peyrou, Patricia Réant, Amélie Reynaud, et al.
Human Genetics|January 21, 2021
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrumAngèle Tingaud-Sequeira, Aurélien Trimouille, Manju Salaria, et al.
Clinical Genetics|July 22, 2025
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number VariantsCéline Pebrel-Richard, Paul Kuentz, Anne-Claude Tabet, et al.
Pediatric Cardiology|April 30, 2016
Cardiac Contractility Modulation in a Model of Repaired Tetralogy of Fallot: A Sheep ModelFrancois Roubertie, Romain Eschalier, Adlane Zemmoura, et al.
The International Journal of Cardiovascular Imaging|May 10, 2020
Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mappingPatricia Réant, Emilie Testet, Amélie Reynaud, et al.
Clinical Genetics|May 20, 2023
Morphological and genetic causes of fetal cardiomyopathiesEva Kohaut, Flavie Ader, Caroline Rooryck, et al.
Clinical Dysmorphology|August 12, 2017
First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2Marie-Laure Vuillaume, Anna-Gaelle Valard, Nada Houcinat, et al.
European Journal of Medical Genetics|February 1, 2011
A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritisStanislas Faguer, Annachiara De Sandre-Giovannoli, Michèle Hemery, et al.
Pigment Cell & Melanoma Research|August 7, 2015
Albinism in a patient with mutations at both the OA1 and OCA3 lociFanny Morice-Picard, Eulalie Lasseaux, Claudio Plaisant, et al.
Human Genetics|November 19, 2010
High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patientsCaroline Rooryck, Fanny Morice-Picard, Eulalie Lasseaux, et al.
Pageof 13