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Publications by J R Heckenlively

Linkage Analysis of Five Pedigrees Affected With Typical Autosomal Dominant Retinitis Pigmentosa.

Journal of Medical Genetics
Genetics
1982English

Nerve Fibre Layer Loss in Diseases of the Outer Retinal Layer.

British Journal of Ophthalmology
Molecular NeuroscienceOphthalmologySensory SystemsCellular
1987English

Related publications

Linkage of Internal Minisatellite Loci on Chromosome 1 and Exclusion of Autosomal Dominant Retinitis Pigmentosa Proximal to Rhesus.

Journal of Medical Genetics
Genetics
1990English

Genomic Rearrangements of thePRPF31Gene Account for 2.5% of Autosomal Dominant Retinitis Pigmentosa

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2006English

Phenotype-Genotype Correlations in Autosomal Dominant Retinitis Pigmentosa Caused by RHO, D190N

Current Eye Research
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2008English

Mutations in Known Genes Account for 58% of Autosomal Dominant Retinitis Pigmentosa (adRP)

Advances in Experimental Medicine and Biology
BiochemistryMedicineGeneticsMolecular Biology
2008English

High Prevalence of Mutations Affecting the Splicing Process in a Spanish Cohort With Autosomal Dominant Retinitis Pigmentosa

Scientific Reports
Multidisciplinary
2017English

Presence of a Triple Concentric Autofluorescence Ring inNR2E3-p.G56R–Linked Autosomal Dominant Retinitis Pigmentosa (ADRP)

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2016English

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa

PLoS ONE
Multidisciplinary
2016English

159. Long-Term Rescue by AAV-Delivered Therapy in Autosomal Dominant Retinitis Pigmentosa (ADRP) Mice

Molecular Therapy
Molecular MedicineMolecular BiologyPharmacologyMedicineGeneticsDrug Discovery
2012English

Abnormal Dark Adaptation Kinetics in Autosomal Dominant Sector Retinitis Pigmentosa Due to Rod Opsin Mutation.

British Journal of Ophthalmology
Molecular NeuroscienceOphthalmologySensory SystemsCellular
1992English

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