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Publications by Susanne Kohl
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
American Journal of Human Genetics
Genetics
Correction: Mapping the Genomic Landscape of Inherited Retinal Disease Genes Prioritizes Genes Prone to Coding and Noncoding Copy-Number Variations
Genetics in Medicine
Medicine
Genetics
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
Medicine
Genetics
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Ophthalmic Features of Retinitis Pigmentosa in Cohen Syndrome Caused by Pathogenic Variants in the VPS 13B Gene
Acta Ophthalmologica
Medicine
Ophthalmology
Ophthalmic Features of Cone-Rod Dystrophy Caused by Pathogenic Variants in the ALMS1 Gene
Acta Ophthalmologica
Medicine
Ophthalmology
Endoplasmic Reticulum Stress in Human Photoreceptor Diseases
Brain Research
Neuroscience
Neurology
Developmental Biology
Molecular Biology
Molecular and Clinical Analysis of 27 German Patients With Leber Congenital Amaurosis
PLoS ONE
Multidisciplinary
Cone Dystrophy With Supernormal Rod Response Is Strictly Associated With Mutations inKCNV2
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
