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Publications by J van Reeuwijk

Disruption of Intraflagellar Protein Transport in Photoreceptor Cilia Causes Leber Congenital Amaurosis in Humans and Mice

Cilia
Cell Biology
2012English

Related publications

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
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2003English

Leber Congenital Amaurosis RPE65: 7 Years Follow Up

Gaceta Medica de Mexico
Medicine
2019English

The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations

Archives of Ophthalmology
2004English

Hypomorphic Mutations Identified in the Candidate Leber Congenital Amaurosis Gene CLUAP1

Genetics in Medicine
MedicineGenetics
2016English

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

PLoS ONE
Multidisciplinary
2018English

Function and Regulation of Primary Cilia and Intraflagellar Transport Proteins in the Skeleton

Annals of the New York Academy of Sciences
GeneticsMolecular BiologyBiochemistryNeuroscienceHistoryPhilosophy of Science
2014English

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
Multidisciplinary
2011English

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