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Publications by Ralph J. Florijn

Clinical Course of Cone Dystrophy Caused by Mutations in the RPGR Gene

Graefe's Archive for Clinical and Experimental Ophthalmology

Molecular Neuroscience

Sensory Systems

English

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Ophthalmic Features of Cone-Rod Dystrophy Caused by Pathogenic Variants in the ALMS1 Gene

Acta Ophthalmologica

English

Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2

American Journal of Human Genetics

English

Homozygosity Mapping in Patients With Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Actininopathy – A New Muscular Dystrophy Caused by ACTN2 Dominant Mutations

Annals of Neurology

English

Terbinafine Resistance of Trichophyton Clinical Isolates Caused by Specific Point Mutations in the Squalene Epoxidase Gene

Antimicrobial Agents and Chemotherapy

Infectious Diseases

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A Human Immunodeficiency Caused by Mutations in the PIK3R1 Gene

Journal of Clinical Investigation

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Hereditary Spastic Paraplegia Caused by Mutations in the SPG4 Gene

European Journal of Human Genetics

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Clinical Features of a Pediatric Case With Cone Dystrophy

Van Medical Journal

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Aged Onset of Amyloidosis Caused by Transthyretin Gene Mutations.

Japanese Journal of Geriatrics

English