Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Documenta Ophthalmologica. Advances in Ophthalmology|June 26, 2024
Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasiaVasily M Smirnov, Eulalie Lasseaux, Vincent Michaud, 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.
European Journal of Medical Genetics|August 2, 2022
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasiaCécile Courdier, Anna Gemahling, Damien Guindolet, et al.
Ophthalmic Genetics|November 29, 2024
The phenotypic spectrum of CEP250 gene variantsCécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, et al.
International Journal of Molecular Sciences|August 29, 2024
Functional Characterization of Splice Variants in the Diagnosis of AlbinismModibo Diallo, Cécile Courdier, Elina Mercier, et al.
Prenatal Diagnosis|March 14, 2023
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)Cécile Courdier, John Boudjarane, Valérie Malan, et al.
Frontiers in Cell and Developmental Biology|December 26, 2022
The different clinical facets of SYN1-related neurodevelopmental disordersIlaria Parenti, Elsa Leitão, Alma Kuechler, et al.
HGG Advances|March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorderLauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, 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.
Pageof 1