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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Disease and USH1G[original query]
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
Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease.
Frontiers in genetics 2019 10 76.
Gallego-Martinez Alvaro, Requena Teresa, Roman-Naranjo Pablo, Lopez-Escamez Jose
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