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Marine Legendre

Showing results (21-30 of 31) with videos related to

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Prenatal Diagnosis|July 23, 2025
The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHSCharlène Daval, Nicolas Meunier-Beillard, Eléonore Viora-Dupont, et al.
Prenatal Diagnosis|August 13, 2024
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disordersChristel Thauvin-Robinet, Aurore Garde, Julian Delanne, et al.
The Journal of Experimental Medicine|September 21, 2021
Implication of folate deficiency in CYP2U1 loss of functionClaire Pujol, Anne Legrand, Livia Parodi, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 28, 2017
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndromeMarine Legendre, Véronique Abadie, Tania Attié-Bitach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 1, 2019
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individualsHenri Margot, Guilaine Boursier, Claire Duflos, et al.
Human Molecular Genetics|December 10, 2013
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defectsAnnie Laquérriere, Jérome Maluenda, Adrien Camus, et al.
American Journal of Human Genetics|April 18, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disabilityElke Bogaert, Aurore Garde, Thierry Gautier, et al.
Frontiers in Genetics|April 10, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic toolFrédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, et al.
Journal of Medical Genetics|April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Prenatal Diagnosis|July 23, 2025
The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHSCharlène Daval, Nicolas Meunier-Beillard, Eléonore Viora-Dupont, et al.
Prenatal Diagnosis|August 13, 2024
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disordersChristel Thauvin-Robinet, Aurore Garde, Julian Delanne, et al.
The Journal of Experimental Medicine|September 21, 2021
Implication of folate deficiency in CYP2U1 loss of functionClaire Pujol, Anne Legrand, Livia Parodi, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 28, 2017
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndromeMarine Legendre, Véronique Abadie, Tania Attié-Bitach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 1, 2019
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individualsHenri Margot, Guilaine Boursier, Claire Duflos, et al.
Human Molecular Genetics|December 10, 2013
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defectsAnnie Laquérriere, Jérome Maluenda, Adrien Camus, et al.
American Journal of Human Genetics|April 18, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disabilityElke Bogaert, Aurore Garde, Thierry Gautier, et al.
Frontiers in Genetics|April 10, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic toolFrédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, et al.
Journal of Medical Genetics|April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Pageof 4