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Publications by Isabelle Audo

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

American Journal of Human Genetics
Genetics
2012English

MERTK Mutations Update in Inherited Retinal Diseases

Human Mutation
Genetics
2018English

Peripapillary Sparing With Near Infrared Autofluorescence Correlates With Electroretinographic Findings in Patients With Stargardt Disease

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2019English

Postural Instability in Subjects With Usher Syndrome

Frontiers in Neurology
Neurology
2019English

Progressive Chorioretinal Involvement in a Patient With Light-Chain (AL) Amyloidosis: A Case Report

BMC Ophthalmology
MedicineOphthalmology
2020English

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness

BioMed Research International
ImmunologyMolecular BiologyBiochemistryMicrobiology MedicineGenetics
2018English

Cone Dystrophy in Patient With HomozygousRP1L1Mutation

BioMed Research International
ImmunologyMolecular BiologyBiochemistryMicrobiology MedicineGenetics
2015English

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