Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Rob W. J. Collin

ABCA4-associated Disease as a Model for Missing Heritability in Autosomal Recessive Disorders: Novel Noncoding Splice, Cis-Regulatory, Structural, and Recurrent Hypomorphic Variants

Genetics in Medicine
MedicineGenetics
2019English

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

JAMA Ophthalmology
Ophthalmology
2014English

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic C.2991+1655A>G Mutation in CEP290

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2018English

Homozygosity Mapping in Patients With Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2010English

Eyes Shut Homolog Is Important for the Maintenance of Photoreceptor Morphology and Visual Function in Zebrafish

PLoS ONE
Multidisciplinary
2018English

Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds

PLoS ONE
Multidisciplinary
2015English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy