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Caroline Rooryck

Showing results (21-30 of 124) with videos related to

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Prenatal Diagnosis|October 18, 2018
Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restrictionStephanie Brun, Perrine Pennamen, Aurelien Mattuizzi, et al.
Molecular Genetics & Genomic Medicine|August 2, 2020
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVSAngèle Tingaud-Sequeira, Aurélien Trimouille, Sandrine Marlin, et al.
Pigment Cell & Melanoma Research|October 23, 2015
Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French GuianaAntoine Bertolotti, Eulalie Lasseaux, Claudio Plaisant, et al.
Journal of Medical Genetics|January 8, 2025
<i>FLNA</i> genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlationsHenri Margot, Natalia Hernandez Poblete, Chloé Angelini, et al.
Gynecologie, Obstetrique, Fertilite & Senologie|March 20, 2023
[Management of isolated increased nuchal translucency: survey among the Pluridisciplinary Centers for Prenatal Diagnosis]Manon De Vriendt, Caroline Rooryck, Frédéric Coatleven, et al.
European Journal of Medical Genetics|September 8, 2009
2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate geneCaroline Rooryck, Marianne Stef, Ingrid Burgelin, et al.
Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography|December 3, 2014
Comparison of resting and exercise echocardiographic parameters as indicators of outcomes in hypertrophic cardiomyopathyPatricia Reant, Amelie Reynaud, Xavier Pillois, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrumCaroline Rooryck, Noui Souakri, Dorothée Cailley, et al.
European Journal of Medical Genetics|January 26, 2012
Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?Sébastien Moutton, Caroline Rooryck, Jérôme Toutain, et al.
Acta Obstetricia Et Gynecologica Scandinavica|February 18, 2025
Outcomes associated with fetal nuchal translucency between 3.0 and 3.4 mm in the first trimesterManon D E Vriendt, Caroline Rooryck, Hugo Madar, et al.
Pageof 13

Showing results (21-30 of 124) with videos related to

Sort By:
Pageof 13
Prenatal Diagnosis|October 18, 2018
Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restrictionStephanie Brun, Perrine Pennamen, Aurelien Mattuizzi, et al.
Molecular Genetics & Genomic Medicine|August 2, 2020
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVSAngèle Tingaud-Sequeira, Aurélien Trimouille, Sandrine Marlin, et al.
Pigment Cell & Melanoma Research|October 23, 2015
Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French GuianaAntoine Bertolotti, Eulalie Lasseaux, Claudio Plaisant, et al.
Journal of Medical Genetics|January 8, 2025
<i>FLNA</i> genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlationsHenri Margot, Natalia Hernandez Poblete, Chloé Angelini, et al.
Gynecologie, Obstetrique, Fertilite & Senologie|March 20, 2023
[Management of isolated increased nuchal translucency: survey among the Pluridisciplinary Centers for Prenatal Diagnosis]Manon De Vriendt, Caroline Rooryck, Frédéric Coatleven, et al.
European Journal of Medical Genetics|September 8, 2009
2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate geneCaroline Rooryck, Marianne Stef, Ingrid Burgelin, et al.
Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography|December 3, 2014
Comparison of resting and exercise echocardiographic parameters as indicators of outcomes in hypertrophic cardiomyopathyPatricia Reant, Amelie Reynaud, Xavier Pillois, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrumCaroline Rooryck, Noui Souakri, Dorothée Cailley, et al.
European Journal of Medical Genetics|January 26, 2012
Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?Sébastien Moutton, Caroline Rooryck, Jérôme Toutain, et al.
Acta Obstetricia Et Gynecologica Scandinavica|February 18, 2025
Outcomes associated with fetal nuchal translucency between 3.0 and 3.4 mm in the first trimesterManon D E Vriendt, Caroline Rooryck, Hugo Madar, et al.
Pageof 13