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Publications by François‐Xavier Borruat

Phenotype of Three Consanguineous Tunisian Families With Early-Onset Retinal Degeneration Caused by an R91W Homozygous Mutation in the RPE65 Gene

Graefe's Archive for Clinical and Experimental Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Related publications

Heterozygous Versus Homozygous Phenotype Caused by the Same Mc4r Mutation: Novel Mutation Affecting a Large Consanguineous Kindred

BMC Medical Genetics

English

Early-Onset Autosomal Recessive Cerebellar Ataxia Associated With Retinal Dystrophy: New Human Hotfoot Phenotype Caused by Homozygous GRID2 Deletion

Genetics in Medicine

English

Exome Sequencing in a Consanguineous Family Clinically Diagnosed With Early-Onset Alzheimer's Disease Identifies a Homozygous CTSF Mutation

Neurobiology of Aging

Developmental Biology

English

An Atypical Phenotype of Macular and Peripapillary Retinal Atrophy Caused by a Mutation in the RP2 Gene

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English

4H Leukodystrophy Caused by a Homozygous POLR3B Mutation: Further Delineation of the Phenotype

American Journal of Medical Genetics, Part A

English

Identifying Mutations in Tunisian Families With Retinal Dystrophy

Scientific Reports

Multidisciplinary

English

Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient

Clinical Case Reports

English

Psy28 - Epidemiology of Rpe65 Gene Mutation Related Inherited Retinal Dystrophies: A Systematic Literature Review

Value in Health

Occupational Health

English

Erratum To: Segregation of S292F TPO Gene Mutation in Three Large Tunisian Families With Thyroid Dyshormonogenesis: Evidence of a Founder Effect

European Journal of Pediatrics

English