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Publications by Rob W.J. Collin
Overview of the Mutation Spectrum in Familial Exudative Vitreoretinopathy and Norrie Disease With Identification of 21 Novel Variants in FZD4, LRP5, and NDP
Human Mutation
Genetics
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human C.2991+1655A>G LCA10 Models
Molecular Therapy - Nucleic Acids
Drug Discovery
Molecular Medicine
Related publications
Familial Exudative Vitreoretinopathy
British Journal of Ophthalmology
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Identification of Novel KIF11 Mutations in Patients With Familial Exudative Vitreoretinopathy and a Phenotypic Analysis
Scientific Reports
Multidisciplinary
Familial Exudative Vitreoretinopathy
101 Familial Exudative Vitreoretinopathy
A Start Codon Mutation of the TSPAN12 Gene in Chinese Families Causes Clinical Heterogeneous Familial Exudative Vitreoretinopathy
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Recessive Mutations inTSPAN12Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Co-Segregation of Norrie Disease and Idiopathic Pulmonary Hypertension in a Family With a Microdeletion of the NDP Region at Xp11.3-P11.4
Journal of Medical Genetics
Genetics
Identification of a Familial Mutation Associated With GABA-Transaminase Deficiency Disease
Neurobiology of Disease
Neurology
Genetic Heterogeneity in Familial Exudative Vitreoretinopathy; Exclusion of the EVR1 Locus on Chromosome 11q in a Large Autosomal Dominant Pedigree
British Journal of Ophthalmology
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
