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Publications by Nicole Weisschuh
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
Ophthalmic Features of Cone-Rod Dystrophy Caused by Pathogenic Variants in the ALMS1 Gene
Acta Ophthalmologica
Medicine
Ophthalmology
Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations
Translational Vision Science and Technology
Ophthalmology
Biomedical Engineering
Molecular and Clinical Analysis of 27 German Patients With Leber Congenital Amaurosis
PLoS ONE
Multidisciplinary
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