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Publications by J. Desir

Borate Transporter SLC4A11 Mutations Cause Both Harboyan Syndrome and Non-Syndromic Corneal Endothelial Dystrophy

Journal of Medical Genetics

English

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SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

American Journal of Human Genetics

English

Advanced Corneal Imaging for Fuchs Endothelial Corneal Dystrophy

English

Spastic Ataxia-Corneal Dystrophy Syndrome

English

Corneal Dystrophy-Perceptive Deafness Syndrome

English

Mutations in theUBIAD1Gene on Chromosome Short Arm 1, Region 36, Cause Schnyder Crystalline Corneal Dystrophy

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Congenital Endothelial Corneal Dystrophy. Clinical, Pathological, and Genetic Study.

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Meretoja’s Syndrome: Lattice Corneal Dystrophy, Gelsolin Type

Case Reports in Medicine

English

N-Acetylcysteine Increases Corneal Endothelial Cell Survival in a Mouse Model of Fuchs Endothelial Corneal Dystrophy

Experimental Eye Research

Molecular Neuroscience

Sensory Systems

English

Corneal Scattering and Biomechanical Behavior in Eyes With Fuchs’ Endothelial Dystrophy

Acta Ophthalmologica

English