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Publications by A-K Jbour
Hypogonadotrophic Hypogonadism, Short Stature, Cerebellar Ataxia, Rod-Cone Retinal Dystrophy, and Hypersegmented Neutrophils: A Novel Disorder or a New Variant of Boucher-Neuhauser Syndrome?
Journal of Medical Genetics
Genetics
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Rod-Cone Dystrophy in Spinocerebellar Ataxia Type 1
Archives of Ophthalmology
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Novel CDHR1 Mutation Causing Cone Rod Dystrophy
Acta Ophthalmologica
Medicine
Ophthalmology
Novel C8ORF37 Mutation Causing Cone Rod Dystrophy
Acta Ophthalmologica
Medicine
Ophthalmology
Severe Chorioretinal Atrophy in Boucher-Neuhauser Syndrome
Canadian Journal of Ophthalmology
Medicine
Ophthalmology
Disruption of a Retinal Guanylyl Cyclase Gene Leads to Cone-Specific Dystrophy and Paradoxical Rod Behavior
Journal of Neuroscience
Neuroscience
Cone-Rod Dystrophy and Amelogenesis Imperfecta (Jalili Syndrome): Phenotypes and Environs
Eye
Medicine
Arts
Sensory Systems
Ophthalmology
Humanities
Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome
Phenotypic Diversity in Autosomal-Dominant Cone-Rod Dystrophy Elucidated by Adaptive Optics Retinal Imaging
British Journal of Ophthalmology
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular