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Marine Legendre

Showing results (1-10 of 31) with videos related to

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BMC Medical Genomics|February 25, 2025
Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning signLouis Domenach, Caroline Rooryck, Marine Legendre, et al.
Genes|November 27, 2021
An Atypical Case of Congenital Erythropoietic PorphyriaBénédicte Sudrié-Arnaud, Marine Legendre, Sarah Snanoudj, et al.
Annales De Pathologie|July 4, 2012
[Cardiac tamponade with anterior interventricular vein thrombosis complicating central venous catheter insertion in a neonate]Dominique Carles, Christian Boucard, Béatrice Baudoin, et al.
The Journal of Molecular Diagnostics : JMD|October 29, 2011
Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosisFrédéric Bilan, Marine Legendre, Valérie Charraud, et al.
European Journal of Medical Genetics|July 26, 2016
Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disabilityRania Naoufal, Marine Legendre, Dominique Couet, et al.
Prenatal Diagnosis|April 11, 2016
Prenatal findings in children with early postnatal diagnosis of CHARGE syndromeTiffany Busa, Marine Legendre, Marie Bauge, et al.
Orphanet Journal of Rare Diseases|June 5, 2020
Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patientsVéronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, et al.
Clinical Genetics|June 30, 2025
Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental DelaysEtienne Bizot, Dima Jouni, Caroline Rooryck, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 8, 2024
Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatriciansMarie Adamo-Croux, Adriane Auger-Gilli, Gwenaël Le Guyader, et al.
Genes|May 27, 2026
<i>COCH</i>-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype CorrelationsRalyath Balogoun, Margaux Serey-Gaut, Véronique Pingault, et al.
Pageof 4

Showing results (1-10 of 31) with videos related to

Sort By:
Pageof 4
BMC Medical Genomics|February 25, 2025
Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning signLouis Domenach, Caroline Rooryck, Marine Legendre, et al.
Genes|November 27, 2021
An Atypical Case of Congenital Erythropoietic PorphyriaBénédicte Sudrié-Arnaud, Marine Legendre, Sarah Snanoudj, et al.
Annales De Pathologie|July 4, 2012
[Cardiac tamponade with anterior interventricular vein thrombosis complicating central venous catheter insertion in a neonate]Dominique Carles, Christian Boucard, Béatrice Baudoin, et al.
The Journal of Molecular Diagnostics : JMD|October 29, 2011
Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosisFrédéric Bilan, Marine Legendre, Valérie Charraud, et al.
European Journal of Medical Genetics|July 26, 2016
Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disabilityRania Naoufal, Marine Legendre, Dominique Couet, et al.
Prenatal Diagnosis|April 11, 2016
Prenatal findings in children with early postnatal diagnosis of CHARGE syndromeTiffany Busa, Marine Legendre, Marie Bauge, et al.
Orphanet Journal of Rare Diseases|June 5, 2020
Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patientsVéronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, et al.
Clinical Genetics|June 30, 2025
Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental DelaysEtienne Bizot, Dima Jouni, Caroline Rooryck, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 8, 2024
Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatriciansMarie Adamo-Croux, Adriane Auger-Gilli, Gwenaël Le Guyader, et al.
Genes|May 27, 2026
<i>COCH</i>-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype CorrelationsRalyath Balogoun, Margaux Serey-Gaut, Véronique Pingault, et al.
Pageof 4