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Marine Arcous, Olivier Putois, Sophie Dalle-Nazébi, Sylvain Kerbourch, Anaelle Cariou, Ines Ben Aissa, Sandrine Marlin & Rémy Potier. (2020) Psychosocial determinants associated with quality of life in people with usher syndrome. A scoping review. Disability and Rehabilitation 42:19, pages 2809-2820.
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Kevin Wang, Brittney Statler, Michael Ramos, Meghan J DeBenedictis, Amy Babiuch, Alex Yuan & Elias I. Traboulsi. (2020) Hickam’s Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient. Ophthalmic Genetics 41:5, pages 465-469.
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Xiaohong Li, Shasha Huang, Yongyi Yuan, Yu Lu, Dejun Zhang, Xiaobin Wang, Huijun Yuan, Weiju Han & Pu Dai. (2019) Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases. Acta Oto-Laryngologica 139:6, pages 479-486.
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Maria Toms, Maria Bitner-Glindzicz, Andrew Webster & Mariya Moosajee. (2015) Usher syndrome: a review of the clinical phenotype, genes and therapeutic strategies. Expert Review of Ophthalmology 10:3, pages 241-256.
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Articles from other publishers (41)
Katja Čadonič, Jana Sajovic, Marko Hawlina & Ana Fakin. (2023) Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* In Exon 13, Amenable to Exon Skipping Therapy. Genes 14:3, pages 652.
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Ana Fakin, Crystel Bonnet, Anne Kurtenbach, Saddek Mohand-Said, Ditta Zobor, Katarina Stingl, Francesco Testa, Francesca Simonelli, José-Alain Sahel, Isabelle Audo, Eberhart Zrenner, Marko Hawlina & Christine Petit. (2021) Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush. International Journal of Molecular Sciences 22:19, pages 10352.
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Catherina Bommert, Elitsa Hristova & Christina Grupcheva. (2021) Usher syndrome—the most common reason for deaf-blindness. Scripta Scientifica Medica 53:2, pages 11.
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Lucia Ambrosio, Ronald M. Hansen, Anne Moskowitz, Andrea Oza, Devon Barrett, Juliana Manganella, Genevieve Medina, Kosuke Kawai, Anne B. Fulton & Margaret Kenna. (2021) Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome. Documenta Ophthalmologica 143:1, pages 39-51.
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Evan M. de Joya, Brett M. Colbert, Pei-Ciao Tang, Byron L. Lam, Jun Yang, Susan H. Blanton, Derek M. Dykxhoorn & Xuezhong Liu. (2021) Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy. International Journal of Molecular Sciences 22:8, pages 3910.
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Dongjun Xing, Huaiyu Zhou, Rongguo Yu, Linni Wang, Liying Hu, Zhiqing Li & Xiaorong Li. (2020) Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report. BMC Ophthalmology 20:1.
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Francesc Pascual Sanchis, Raquel Úbeda Cano, Alberto Rico Mollá & Alfonso Pedrós Roselló. (2020) Síndrome de Usher y esquizofrenia. A propósito de un caso. Psiquiatría Biológica 27:2, pages 74-77.
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Maria Toms, Waheeda Pagarkar & Mariya Moosajee. (2020) Usher syndrome: clinical features, molecular genetics and advancing therapeutics. Therapeutic Advances in Ophthalmology 12, pages 251584142095219.
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Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu & Jing Wang. (2019) Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report. BMC Medical Genetics 20:1.
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Carla Fuster-García, Gema García-García, Teresa Jaijo, Neus Fornés, Carmen Ayuso, Miguel Fernández-Burriel, Ana Sánchez-De la Morena, Elena Aller & José M. Millán. (2018) High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. Scientific Reports 8:1.
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Ailian Xiong, Jessica Haithcock, Yingying Liu, Lauren Eusner, Matthew McConnell, Howard D. White, Betty Belknap & Eva Forgacs. (2018) The shaker-1 mouse myosin VIIa deafness mutation results in a severely reduced rate of the ATP hydrolysis step. Journal of Biological Chemistry 293:3, pages 819-829.
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Giuseppe Magliulo, Giannicola Iannella, Silvia Gagliardi, Nicola Iozzo, Rocco Plateroti, Alessandro Mariottini & Francesca Torricelli. (2017) Usher’s Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation. Otolaryngology–Head and Neck Surgery 157:5, pages 853-860.
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