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Publications by M A Spence

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

Journal of Medical Genetics

English

Genetic Analyses of Pyloric Stenosis Suggesting a Specific Maternal Effect.

Journal of Medical Genetics

English

Related publications

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

Journal of Medical Genetics

English

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

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

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

Current Eye Research

Molecular Neuroscience

Sensory Systems

English

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

Advances in Experimental Medicine and Biology

Molecular Biology

English

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

Scientific Reports

Multidisciplinary

English

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

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

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

Multidisciplinary

English

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

Molecular Therapy

Molecular Medicine

Molecular Biology

English

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

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English