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Publications by Fabian A Abraham
The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed With Nonsyndromic Hearing Loss Foreshadows Retinitis Pigmentosa
Pediatric Research
Child Health
Pediatrics
Perinatology
Related publications
Missense Mutation in the USH2A Gene: Association With Recessive Retinitis Pigmentosa Without Hearing Loss
American Journal of Human Genetics
Genetics
Identification of a Novel Pathogenic OTOF Variant Causative of Nonsyndromic Hearing Loss With High Frequency in the Ashkenazi Jewish Population
The Application of Clinical Genetics
Genetics
Alternative Splicing Shapes the Phenotype of a Mutation inBBS8To Cause Nonsyndromic Retinitis Pigmentosa
Molecular and Cellular Biology
Cell Biology
Molecular Biology
Giant Retinal Tear and Retinal Detachment With Underlying Retinitis Pigmentosa and Hearing Loss
Eye
Medicine
Arts
Sensory Systems
Ophthalmology
Humanities
NMNAT1 Mutation Causing Retinitis Pigmentosa
Acta Ophthalmologica
Medicine
Ophthalmology
725 a New Syndrome of Retinitis Pigmentosa, Hearing Loss, Mental Retardation, and Dysmorphology
Pediatric Research
Child Health
Pediatrics
Perinatology
Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa With Late-Onset Hearing Loss
PLoS ONE
Multidisciplinary
Screening of Connexin 26 in Nonsyndromic Hearing Loss
International Archives of Otorhinolaryngology
Otorhinolaryngology
Mutation in the Intracellular Chloride Channel CLCC1 Associated With Autosomal Recessive Retinitis Pigmentosa
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
