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Marie-Ange Delrue

Showing results (41-50 of 55) with videos related to

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American Journal of Human Genetics|March 17, 2015
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopeciaChristopher T Gordon, K Nicole Weaver, Roseli Maria Zechi-Ceide, et al.
The Journal of Pediatrics|March 29, 2013
Clinical and molecular spectrum of renal malformations in Kabuki syndromeJean-Benoît Courcet, Laurence Faivre, Caroline Michot, et al.
European Journal of Medical Genetics|August 13, 2013
Finger creases lend a hand in Kabuki syndromeCaroline Michot, Carole Corsini, Damien Sanlaville, et al.
JACC. Basic to Translational Science|March 25, 2025
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic CardiomyopathyCordula M Wolf, Martin Zenker, Olga Boleti, et al.
American Journal of Human Genetics|September 26, 2023
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defectsFlorence Petit, Mauro Longoni, Julie Wells, et al.
Journal of Medical Genetics|August 30, 2014
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencingClaire Redin, Bénédicte Gérard, Julia Lauer, 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.
European Journal of Human Genetics : EJHG|April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutationsFlorence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.
American Journal of Medical Genetics. Part A|December 27, 2019
Growth charts in Kabuki syndrome 1Valentin Ruault, Carole Corsini, Claire Duflos, et al.
Human Mutation|September 17, 2013
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformationNicole Revencu, Laurence M Boon, Antonella Mendola, et al.
Pageof 6

Showing results (41-50 of 55) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|March 17, 2015
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopeciaChristopher T Gordon, K Nicole Weaver, Roseli Maria Zechi-Ceide, et al.
The Journal of Pediatrics|March 29, 2013
Clinical and molecular spectrum of renal malformations in Kabuki syndromeJean-Benoît Courcet, Laurence Faivre, Caroline Michot, et al.
European Journal of Medical Genetics|August 13, 2013
Finger creases lend a hand in Kabuki syndromeCaroline Michot, Carole Corsini, Damien Sanlaville, et al.
JACC. Basic to Translational Science|March 25, 2025
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic CardiomyopathyCordula M Wolf, Martin Zenker, Olga Boleti, et al.
American Journal of Human Genetics|September 26, 2023
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defectsFlorence Petit, Mauro Longoni, Julie Wells, et al.
Journal of Medical Genetics|August 30, 2014
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencingClaire Redin, Bénédicte Gérard, Julia Lauer, 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.
European Journal of Human Genetics : EJHG|April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutationsFlorence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.
American Journal of Medical Genetics. Part A|December 27, 2019
Growth charts in Kabuki syndrome 1Valentin Ruault, Carole Corsini, Claire Duflos, et al.
Human Mutation|September 17, 2013
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformationNicole Revencu, Laurence M Boon, Antonella Mendola, et al.
Pageof 6