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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 6, 2023. (Total: 223792Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Retinitis Pigmentosa and USH1C[original query]
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Human genetics 2005 Mar 116 (4): 292-9.
Ouyang Xiao Mei, Yan Denise, Du Li Lin, Hejtmancik J Fielding, Jacobson Samuel G, Nance Walter E, Li An Ren, Angeli Simon, Kaiser Muriel, Newton Valerie, Brown Steve D M, Balkany Thomas, Liu Xue Zho
Novel mutations in the USH1C gene in Usher syndrome patients.
Molecular vision 2010 16 2948-54.
Aparisi María José, García-García Gema, Jaijo Teresa, Rodrigo Regina, Graziano Claudio, Seri Marco, Simsek Tulay, Simsek Enver, Bernal Sara, Baiget Montserrat, Pérez-Garrigues Herminio, Aller Elena, Millán José Mar
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Orphanet journal of rare diseases 2014 9 168.
Aparisi María J, Aller Elena, Fuster-García Carla, García-García Gema, Rodrigo Regina, Vázquez-Manrique Rafael P, Blanco-Kelly Fiona, Ayuso Carmen, Roux Anne-Françoise, Jaijo Teresa, Millán José
Genetic Screening of the Usher Syndrome in Cuba.
Frontiers in genetics 2019 6 10 501.
Santana Elayne E, Fuster-García Carla, Aller Elena, Jaijo Teresa, García-Bohórquez Belén, García-García Gema, Millán José M, Lantigua Arace
Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.
Journal of advanced research 2021 7 31 13-24.
Souissi Amal, Ben Said Mariem, Ben Ayed Ikhlas, Elloumi Ines, Bouzid Amal, Mosrati Mohamed Ali, Hasnaoui Mehdi, Belcadhi Malek, Idriss Nabil, Kamoun Hassen, Gharbi Nourhene, Gibriel Abdullah A, Tlili Abdelaziz, Masmoudi Sab
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Genes 2022 8 13 (8): .
Feenstra Helena M, Al-Khuzaei Saoud, Shah Mital, Broadgate Suzanne, Shanks Morag, Kamath Archith, Yu Jing, Jolly Jasleen K, MacLaren Robert E, Clouston Penny, Halford Stephanie, Downes Susan
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