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Publications by Elizabeth A. Sweklo

Missense Mutation in the USH2A Gene: Association With Recessive Retinitis Pigmentosa Without Hearing Loss

American Journal of Human Genetics

Genetics

2000

English

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A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy

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Mutation in the Intracellular Chloride Channel CLCC1 Associated With Autosomal Recessive Retinitis Pigmentosa

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Mutations in USH2A in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa: High Prevalence and Phenotypic Variation

Journal of Medical Genetics

Genetics

2003

English

The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed With Nonsyndromic Hearing Loss Foreshadows Retinitis Pigmentosa

English

Identification of Novel USH2A Mutations in Patients With Autosomal Recessive Retinitis Pigmentosa via Targeted Next‑generation Sequencing

Molecular Medicine Reports

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Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss

Zahedan Journal of Research in Medical Sciences

2016

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Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa With Late-Onset Hearing Loss

PLoS ONE

Multidisciplinary

2012

English

Mutation Screening of Multiple Genes in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

PLoS ONE

Multidisciplinary

2011

English

Giant Retinal Tear and Retinal Detachment With Underlying Retinitis Pigmentosa and Hearing Loss

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Elizabeth A. Sweklo

Missense Mutation in the USH2A Gene: Association With Recessive Retinitis Pigmentosa Without Hearing Loss

Related publications

A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy

Mutation in the Intracellular Chloride Channel CLCC1 Associated With Autosomal Recessive Retinitis Pigmentosa

Mutations in USH2A in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa: High Prevalence and Phenotypic Variation

The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed With Nonsyndromic Hearing Loss Foreshadows Retinitis Pigmentosa

Identification of Novel USH2A Mutations in Patients With Autosomal Recessive Retinitis Pigmentosa via Targeted Next‑generation Sequencing

Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss

Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa With Late-Onset Hearing Loss

Mutation Screening of Multiple Genes in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

Giant Retinal Tear and Retinal Detachment With Underlying Retinitis Pigmentosa and Hearing Loss