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Ophthalmic Genetics|March 3, 2020
Novel mutations in <i>MFRP</i> and <i>PRSS56</i> are associated with posterior microphthalmosGiacomo Maria Bacci, Sara Bargiacchi, Pina Fortunato, et al.European Journal of Ophthalmology|September 8, 2021
Optical coherence tomography angiography in healthy children: A comparison of macular structureCarmen Plaitano, Francesca Periti, Rosanna Guagliano, et al.Nutrients|October 18, 2019
Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular DystrophyMarco Piccardi, Antonello Fadda, Francesco Martelli, et al.Human Molecular Genetics|September 6, 2018
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptorsValerio Marino, Giuditta Dal Cortivo, Elisa Oppici, et al.Neuroradiology|December 29, 2022
Congenital isolated unilateral third nerve palsy in children: the diagnostic contribution of high-resolution MR imagingFilippo Arrigoni, Luca Rombetto, Daniela Redaelli, et al.European Journal of Medical Genetics|September 3, 2008
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephalyVirginia M Ginocchio, Daniele De Brasi, Rita Genesio, et al.International Journal of Molecular Sciences|January 5, 2021
Expanding the Clinical and Genetic Spectrum of <i>RAB28</i>-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian FamiliesGiancarlo Iarossi, Valerio Marino, Paolo Enrico Maltese, et al.Ophthalmic Research|August 6, 2018
Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX VariantFabiana D'Esposito, Gilda Cennamo, Giuseppe de Crecchio, et al.European Journal of Ophthalmology|October 1, 2019
Novel <i>USH1G</i> homozygous variant underlying USH2-like phenotype of Usher syndromeFabiana D'Esposito, Viviana Randazzo, Gilda Cennamo, et al.Journal of Translational Medicine|October 2, 2019
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biologyVladimir Frecer, Giancarlo Iarossi, Anna Paola Salvetti, et al.Pageof 5