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Human Molecular Genetics|December 28, 2016
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1Farina Vocke, Nicole Weisschuh, Valerio Marino, et al.International Journal of Molecular Sciences|March 6, 2021
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense VariantUlrich Kellner, Nicole Weisschuh, Silke Weinitz, et al.The Biochemical Journal|August 4, 2016
Intermolecular disulfide bond influences unphosphorylated STAT3 dimerization and functionElena Butturini, Giovanni Gotte, Daniele Dell'Orco, et al.International Journal of Molecular Sciences|March 25, 2022
Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis PigmentosaAnna Avesani, Laura Bielefeld, Nicole Weisschuh, et al.International Journal of Pharmaceutics|January 7, 2026
Protein delivery to the eye: assessing therapeutic potential across inner and outer retinaGiuditta Dal Cortivo, Carmen Longo, Brigitte Müller, et al.International Journal of Molecular Sciences|February 11, 2023
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal DystrophyJan-Philipp Bodenbender, Valerio Marino, Leon Bethge, 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.International Journal of Molecular Sciences|January 5, 2021
Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian FamiliesGiancarlo Iarossi, Valerio Marino, Paolo Enrico Maltese, et al.International Journal of Molecular Sciences|September 3, 2020
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary LipedemaSandro Michelini, Pietro Chiurazzi, Valerio Marino, et al.Scientific Reports|May 8, 2024
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypesJan-Philipp Bodenbender, Valerio Marino, Julia Philipp, et al.Pageof 5