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Marine Legendre

Showing results (11-20 of 31) with videos related to

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Clinical Genetics|October 30, 2025
Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case SeriesSebastian Burkart, Tarik Guzeloglu, Ana R Soares, et al.
Human Mutation|July 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patientsJuliette Coursimault, Kévin Cassinari, François Lecoquierre, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assaysMarine Legendre, Montserrat Rodriguez-Ballesteros, Massimiliano Rossi, et al.
Annals of Neurology|April 16, 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological PropertiesMaria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, et al.
European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
American Journal of Human Genetics|August 14, 2012
TCTN3 mutations cause Mohr-Majewski syndromeSophie Thomas, Marine Legendre, Sophie Saunier, et al.
American Journal of Human Genetics|April 7, 2022
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiationMarion Coolen, Nami Altin, Karthyayani Rajamani, et al.
Clinical Genetics|June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 PatientsCamille Bergès, Clément Sauvestre, Sophie Naudion, et al.
American Journal of Human Genetics|July 14, 2015
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly SyndromeCaroline Alby, Kevin Piquand, Céline Huber, et al.
Journal of Medical Genetics|October 2, 2012
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutationsMarine Legendre, Marie Gonzales, Géraldine Goudefroye, et al.
Pageof 4

Showing results (11-20 of 31) with videos related to

Sort By:
Pageof 4
Clinical Genetics|October 30, 2025
Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case SeriesSebastian Burkart, Tarik Guzeloglu, Ana R Soares, et al.
Human Mutation|July 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patientsJuliette Coursimault, Kévin Cassinari, François Lecoquierre, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assaysMarine Legendre, Montserrat Rodriguez-Ballesteros, Massimiliano Rossi, et al.
Annals of Neurology|April 16, 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological PropertiesMaria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, et al.
European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
American Journal of Human Genetics|August 14, 2012
TCTN3 mutations cause Mohr-Majewski syndromeSophie Thomas, Marine Legendre, Sophie Saunier, et al.
American Journal of Human Genetics|April 7, 2022
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiationMarion Coolen, Nami Altin, Karthyayani Rajamani, et al.
Clinical Genetics|June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 PatientsCamille Bergès, Clément Sauvestre, Sophie Naudion, et al.
American Journal of Human Genetics|July 14, 2015
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly SyndromeCaroline Alby, Kevin Piquand, Céline Huber, et al.
Journal of Medical Genetics|October 2, 2012
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutationsMarine Legendre, Marie Gonzales, Géraldine Goudefroye, et al.
Pageof 4