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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 5, 2023. (Total: 217663Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Retinal Dystrophies and RHO[original query]
Utility of molecular testing for related retinal dystrophies.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2006 Apr 41 (2): 190-6.
Mezer Eedy, Sutherland Joanne, Goei Stephanie L, Héon Elise, Levin Alex
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
European journal of human genetics : EJHG 2014 Jan 22 (1): 99-104.
Glöckle Nicola, Kohl Susanne, Mohr Julia, Scheurenbrand Tim, Sprecher Andrea, Weisschuh Nicole, Bernd Antje, Rudolph Günther, Schubach Max, Poloschek Charlotte, Zrenner Eberhart, Biskup Saskia, Berger Wolfgang, Wissinger Bernd, Neidhardt Jo
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
Genetics and molecular research : GMR 2014 13 (4): 8815-33.
Pierrottet C O, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti L M, Cecchin S, Orzalesi N, Bertelli
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.
Scientific reports 2017 Jan 7 39652.
Ezquerra-Inchausti Maitane, Barandika Olatz, Anasagasti Ander, Irigoyen Cristina, López de Munain Adolfo, Ruiz-Ederra Javi
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