Search | IOVS | ARVO Journals

Access Provided By:
MIT Libraries

Forgot password?

Create an Account

View

Showing 1 – 4 of 4

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

ARVO Annual Meeting Abstract April 2014

Molecular characterization of SNRNP200 mutations causing autosomal dominant retinitis pigmentosa with incomplete penetrance and phenotypic variability

Carlo Rivolta; Paola Benaglio; Tremeur Guillaumie; Gael Manes; Shyana Harper; Eliot L Berson; Isabelle Meunier; Christian P Hamel

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3264.

ARVO Annual Meeting Abstract March 2012

Exome Sequencing In Individual Patients With Recessive Retinal Degeneration As A Tool For Mutation And Disease Gene Discovery

Paola Benaglio; Koji M. Nishiguchi; Marta Corton; Almudena Avila-Fernandez; Rosa Riveiro-Alvarez; Carmen Ayuso; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4519.

ARVO Annual Meeting Abstract April 2011

Next Generation Sequencing Of Pooled DNA From A Large Cohort Of Patients Reveals New SNRNP200 Mutations Associated With Retinitis Pigmentosa

Paola Benaglio; Leonardo P. Capelli; Shyana Harper; Eliot L. Berson; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):3316.

ARVO Annual Meeting Abstract April 2010

Challenges of Ultra High Throughput Sequencing in Mutation Detection: A Benchmark Study on an Intronic Repetitive Element of the Retinitis Pigmentosa 11 Gene

P. Benaglio; E. Brini; C. Rivolta

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):4090.

Advertisement