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Caroline Rooryck

Showing results (11-20 of 124) with videos related to

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European Journal of Medical Genetics|November 21, 2007
A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformationCaroline Rooryck, Ingrid Burgelin, Marianne Stef, et al.
Journal of Cardiovascular Electrophysiology|July 23, 2015
New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin GeneCaroline Rooryck, Florence Kyndt, Dominique Bozon, et al.
European Journal of Medical Genetics|February 6, 2010
Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrumCaroline Rooryck, Yen VuPhi, Noui Souakri, et al.
European Journal of Medical Genetics|March 5, 2013
Prenatal diagnosis using array-CGH: a French experienceCaroline Rooryck, Jérôme Toutain, Dorothée Cailley, et al.
European Journal of Medical Genetics|December 27, 2011
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotypeAurore Brun, Dorothée Cailley, Jérôme Toutain, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 23, 2014
SCA27 is a cause of early-onset ataxia and developmental delayMarc Planes, Caroline Rooryck, Marie-Laure Vuillaume, et al.
European Journal of Medical Genetics|August 17, 2017
Early fetal presentation of Koolen-de Vries: Case report with literature reviewFanny Sauvestre, Florent Marguet, Caroline Rooryck, et al.
Clinical Genetics|July 9, 2020
Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3Aurélien Trimouille, Angèle Tingaud-Sequeira, Didier Lacombe, et al.
Journal of Neuroradiology = Journal De Neuroradiologie|November 21, 2015
Understanding flow patterns and inflammatory status in intracranial aneurysms: Towards a personalized medicineJérôme Berge, Patrick Blanco, Caroline Rooryck, et al.
Molecular Genetics and Metabolism|August 8, 2013
Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplicationMarie-Laure Vuillaume, Marie-Ange Delrue, Sophie Naudion, et al.
Pageof 13

Showing results (11-20 of 124) with videos related to

Sort By:
Pageof 13
European Journal of Medical Genetics|November 21, 2007
A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformationCaroline Rooryck, Ingrid Burgelin, Marianne Stef, et al.
Journal of Cardiovascular Electrophysiology|July 23, 2015
New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin GeneCaroline Rooryck, Florence Kyndt, Dominique Bozon, et al.
European Journal of Medical Genetics|February 6, 2010
Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrumCaroline Rooryck, Yen VuPhi, Noui Souakri, et al.
European Journal of Medical Genetics|March 5, 2013
Prenatal diagnosis using array-CGH: a French experienceCaroline Rooryck, Jérôme Toutain, Dorothée Cailley, et al.
European Journal of Medical Genetics|December 27, 2011
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotypeAurore Brun, Dorothée Cailley, Jérôme Toutain, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 23, 2014
SCA27 is a cause of early-onset ataxia and developmental delayMarc Planes, Caroline Rooryck, Marie-Laure Vuillaume, et al.
European Journal of Medical Genetics|August 17, 2017
Early fetal presentation of Koolen-de Vries: Case report with literature reviewFanny Sauvestre, Florent Marguet, Caroline Rooryck, et al.
Clinical Genetics|July 9, 2020
Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3Aurélien Trimouille, Angèle Tingaud-Sequeira, Didier Lacombe, et al.
Journal of Neuroradiology = Journal De Neuroradiologie|November 21, 2015
Understanding flow patterns and inflammatory status in intracranial aneurysms: Towards a personalized medicineJérôme Berge, Patrick Blanco, Caroline Rooryck, et al.
Molecular Genetics and Metabolism|August 8, 2013
Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplicationMarie-Laure Vuillaume, Marie-Ange Delrue, Sophie Naudion, et al.
Pageof 13