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Publications by Sharola Dharmaraj

The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations

Archives of Ophthalmology
2004English

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Leber Congenital Amaurosis

2020English

The Expression of the Leber Congenital Amaurosis Protein AIPL1 Coincides With Rod and Cone Photoreceptor Development

Investigative Ophthalmology and Visual Science
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2003English

Hypomorphic Mutations Identified in the Candidate Leber Congenital Amaurosis Gene CLUAP1

Genetics in Medicine
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2016English

Molecular and Clinical Analysis of 27 German Patients With Leber Congenital Amaurosis

PLoS ONE
Multidisciplinary
2018English

Mutation Screen of the TUB Gene in Patients With Retinitis Pigmentosa and Leber Congenital Amaurosis

Experimental Eye Research
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2006English

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients With Leber Congenital Amaurosis

PLoS ONE
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2011English

Leber Congenital Amaurosis RPE65: 7 Years Follow Up

Gaceta Medica de Mexico
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Nonpenetrance of the Most Frequent Autosomal Recessive Leber Congenital Amaurosis Mutation inNMNAT1

JAMA Ophthalmology
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2014English

Compound Heterozygous Novel Frameshift Variants in the PROM1 Gene Result in Leber Congenital Amaurosis

Cold Spring Harbor molecular case studies
BiochemistryMolecular MedicineGenetics
2019English

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