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1

Novel and Recurrent Copy Number Variants in ABCA4-Associate..:

Corradi, Zelia ; Dhaenens, Claire-Marie ; Grunewald, Olivier...
International Journal of Molecular Sciences. 25 (2024) 11 - p. 5940 , 2024

Link: https://doi.org/10.3390/..

2

Neuropathy target esterase activity defines phenotypes amon..:

Liu, James ; He, Yi ; Lwin, Cara...
Brain. 147 (2024) 6 - p. 2085-2097 , 2024

Link: https://doi.org/10.1093/..

3

Validation of Nanopore long-read sequencing to resolve RPGR..:

Vaché, Christel ; Faugère, Valérie ; Baux, David...
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

4

Crossed VEP asymmetry in a patient with AHR-linked infantil..:

Smirnov, Vasily M. ; Lasseaux, Eulalie ; Michaud, Vincent...
Documenta Ophthalmologica. , 2024

Link: https://doi.org/10.1007/..

5

TBC1D32 variants disrupt retinal ciliogenesis and cause ret..:

Bocquet, Béatrice ; Borday, Caroline ; Erkilic, Nejla...
JCI Insight. 8 (2023) 21 - p. , 2023

Link: https://doi.org/10.1172/..

6

Mutational Spectrum, Ocular and Olfactory Phenotypes of CNG..:

Geada, Sara ; Teixeira-Marques, Francisco ; Teixeira, Bruno...
Genes. 14 (2023) 4 - p. 830 , 2023

Link: https://doi.org/10.3390/..

7

Association of Meier-Gorlin and microcephalic osteodysplast..:

Sabbagh, Quentin ; Tharreau, Mylène ; Cenni, Camille...
European Journal of Medical Genetics. 66 (2023) 5 - p. 104733 , 2023

Link: https://doi.org/10.1016/..

8

USH2A variants causing retinitis pigmentosa or Usher syndro..:

Sanjurjo-Soriano, Carla ; Jimenez-Medina, Carla ; Erkilic, Nejla...
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100229 , 2023

Link: https://doi.org/10.1016/..

9

Atypical Foveal Hypoplasia in Best Disease:

Moret, Emmanuelle ; Lejoyeux, Raphaël ; Bonnin, Sophie...
Journal of Personalized Medicine. 13 (2023) 2 - p. 337 , 2023

Link: https://doi.org/10.3390/..

10

Cost-effective sequence analysis of 113 genes in 1,192 prob..:

Panneman, Daan M. ; Hitti-Malin, Rebekkah J. ; Holtes, Lara K....
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

11

Generation of a human iPSC line, INMi005-A, from a patient ..:

Sanjurjo-Soriano, Carla ; Erkilic, Nejla ; Vache, Christel...
Stem Cell Research. 60 (2022) - p. 102738 , 2022

Link: https://doi.org/10.1016/..

12

Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype:

Fardeau, Christine ; Alafaleq, Munirah ; Ferchaud, Marie-Adélaïde...
International Journal of Molecular Sciences. 23 (2022) 14 - p. 7868 , 2022

Link: https://doi.org/10.3390/..

13

Next-Generation Sequencing Identifies Novel PMPCA Variants ..:

Charif, Majida ; Chevrollier, Arnaud ; Gueguen, Naïg...
Genes. 13 (2022) 7 - p. 1202 , 2022

Link: https://doi.org/10.3390/..

14

Retinoic acid delays initial photoreceptor differentiation ..:

Sanjurjo-Soriano, Carla ; Erkilic, Nejla ; Damodar, Krishna...
Stem Cell Research & Therapy. 13 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

15

Contributors:

, In: Clinical Ophthalmic Genetics and Genomics,

Aleman, Tomas S. ; Amati-Bonneau, Patrizia ; Arveiler, Benoît... - p. xi-xiv , 2022

Link: https://doi.org/10.1016/..

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