Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Frans P. M. Cremers
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
Mutation in the Intracellular Chloride Channel CLCC1 Associated With Autosomal Recessive Retinitis Pigmentosa
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Nonpenetrance of the Most Frequent Autosomal Recessive Leber Congenital Amaurosis Mutation inNMNAT1
JAMA Ophthalmology
Ophthalmology
Homozygosity Mapping in Patients With Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Mutation- And Tissue-Specific Alterations ofRPGRTranscripts
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
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
A Dutch Family With Hearing Loss Linked to the DFNA20/26 Locus
Archives of Otolaryngology–Head & Neck Surgery
