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Benoit Arveiler

Showing results (21-30 of 82) with videos related to

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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.
Pediatric Dermatology|November 29, 2013
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature reviewFanny Morice-Picard, Khaled Ezzedine, Marie-Ange Delrue, et al.
The Journal of Gene Medicine|April 5, 2020
Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case reportThibaut Matis, Vincent Michaud, Julien Van-Gils, 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.
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.
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.
European Journal of Human Genetics : EJHG|January 14, 2025
A patient with TPCN2-related hypopigmentation and ocular phenotypeCécile Courdier, Vincent Michaud, Modibo Diallo, et al.
African Health Sciences|November 19, 2021
Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndromeSiham Chafai Elalaoui, Wiam Smaili, Julien Van-Gils, et al.
Platelets|April 5, 2020
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodiesVincent Michaud, Mathieu Fiore, Valentine Coste, 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.
Pageof 9

Showing results (21-30 of 82) with videos related to

Sort By:
Pageof 9
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.
Pediatric Dermatology|November 29, 2013
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature reviewFanny Morice-Picard, Khaled Ezzedine, Marie-Ange Delrue, et al.
The Journal of Gene Medicine|April 5, 2020
Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case reportThibaut Matis, Vincent Michaud, Julien Van-Gils, 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.
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.
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.
European Journal of Human Genetics : EJHG|January 14, 2025
A patient with TPCN2-related hypopigmentation and ocular phenotypeCécile Courdier, Vincent Michaud, Modibo Diallo, et al.
African Health Sciences|November 19, 2021
Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndromeSiham Chafai Elalaoui, Wiam Smaili, Julien Van-Gils, et al.
Platelets|April 5, 2020
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodiesVincent Michaud, Mathieu Fiore, Valentine Coste, 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.
Pageof 9