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Caroline Rooryck

Showing results (61-70 of 124) with videos related to

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The Journal of Investigative Dermatology|August 30, 2013
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinismFanny Morice-Picard, Eulalie Lasseaux, Stéphane François, et al.
Journal of Medical Genetics|July 1, 2016
Mutations in <i>MYT1</i>, encoding the myelin transcription factor 1, are a rare cause of OAVSEstelle Lopez, Marie Berenguer, Angèle Tingaud-Sequeira, et al.
Circulation. Arrhythmia and Electrophysiology|October 26, 2018
Arrhythmogenic Remodeling of the Left Ventricle in a Porcine Model of Repaired Tetralogy of FallotVirginie Dubes, David Benoist, François Roubertie, et al.
Heart (British Cardiac Society)|January 5, 2017
Proarrhythmic remodelling of the right ventricle in a porcine model of repaired tetralogy of FallotDavid Benoist, Virginie Dubes, François Roubertie, et al.
European Journal of Human Genetics : EJHG|May 7, 2021
Evidence of mosaicism in SPAST variant carriers in four French familiesChloé Angelini, Cyril Goizet, Samia Ait Said, et al.
Nucleic Acids Research|October 11, 2021
Modulation of the intrinsic chromatin binding property of HIV-1 integrase by LEDGF/p75Delphine Lapaillerie, Benoît Lelandais, Eric Mauro, et al.
Clinical Genetics|January 23, 2025
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic CounselingMarie Massier, Pascal de Groote, Erwan Donal, et al.
Circulation. Genomic and Precision Medicine|November 12, 2025
Exploring <i>RBFOX2</i> Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart SyndromeClément Sauvestre, Amel Bouchatal, Claire Beneteau, et al.
European Journal of Pain (London, England)|August 5, 2024
Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studiesChloé Angelini, Claire Bar, Marie Pierre Baudier, et al.
The British Journal of Ophthalmology|November 26, 2018
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <i>TYR</i> geneSolene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, et al.
Pageof 13

Showing results (61-70 of 124) with videos related to

Sort By:
Pageof 13
The Journal of Investigative Dermatology|August 30, 2013
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinismFanny Morice-Picard, Eulalie Lasseaux, Stéphane François, et al.
Journal of Medical Genetics|July 1, 2016
Mutations in <i>MYT1</i>, encoding the myelin transcription factor 1, are a rare cause of OAVSEstelle Lopez, Marie Berenguer, Angèle Tingaud-Sequeira, et al.
Circulation. Arrhythmia and Electrophysiology|October 26, 2018
Arrhythmogenic Remodeling of the Left Ventricle in a Porcine Model of Repaired Tetralogy of FallotVirginie Dubes, David Benoist, François Roubertie, et al.
Heart (British Cardiac Society)|January 5, 2017
Proarrhythmic remodelling of the right ventricle in a porcine model of repaired tetralogy of FallotDavid Benoist, Virginie Dubes, François Roubertie, et al.
European Journal of Human Genetics : EJHG|May 7, 2021
Evidence of mosaicism in SPAST variant carriers in four French familiesChloé Angelini, Cyril Goizet, Samia Ait Said, et al.
Nucleic Acids Research|October 11, 2021
Modulation of the intrinsic chromatin binding property of HIV-1 integrase by LEDGF/p75Delphine Lapaillerie, Benoît Lelandais, Eric Mauro, et al.
Clinical Genetics|January 23, 2025
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic CounselingMarie Massier, Pascal de Groote, Erwan Donal, et al.
Circulation. Genomic and Precision Medicine|November 12, 2025
Exploring <i>RBFOX2</i> Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart SyndromeClément Sauvestre, Amel Bouchatal, Claire Beneteau, et al.
European Journal of Pain (London, England)|August 5, 2024
Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studiesChloé Angelini, Claire Bar, Marie Pierre Baudier, et al.
The British Journal of Ophthalmology|November 26, 2018
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <i>TYR</i> geneSolene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, et al.
Pageof 13