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Publications by Mariken Ruiter

Nonpenetrance of the Most Frequent Autosomal Recessive Leber Congenital Amaurosis Mutation inNMNAT1

JAMA Ophthalmology

English

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Leber Congenital Amaurosis

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

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Leber Congenital Amaurosis RPE65: 7 Years Follow Up

Gaceta Medica de Mexico

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The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations

Archives of Ophthalmology

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Hypomorphic Mutations Identified in the Candidate Leber Congenital Amaurosis Gene CLUAP1

Genetics in Medicine

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

Multidisciplinary

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Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia

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Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

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A Novel Missence Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

Journal of Integrative Cardiology

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