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Publications by J H Fingert

A Novel Mutation (LEU396ARG) in OPA1 Is Associated With a Severe Phenotype in a Large Dominant Optic Atrophy Pedigree

Sensory Systems

English

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A Novel Missense OPA1 Mutation in a Patient With Dominant Optic Atrophy and Cervical Dystonia

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Glaucoma Phenotype in a Large Swiss Pedigree With the Myocilin Gly367Arg Mutation

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Optic Atrophy 1 (OPA1)

Science-Business eXchange

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A Novel GJB1 Mutation Associated With X‐linked Charcot–Marie–Tooth Disease in a Large Chinese Family Pedigree

Molecular genetics & genomic medicine

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Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree With Dominant Axonal Charcot-Marie-Tooth Disease

American Journal of Human Genetics

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A Novel Missense Mutation in ANO5/TMEM16E Is Causative for Gnathodiaphyseal Dyplasia in a Large Italian Pedigree

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A Novel Mutation in TTC8 Is Associated With Progressive Retinal Atrophy in the Golden Retriever

Canine Genetics and Epidemiology

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Pattern of Retinal Ganglion Cell Loss in Dominant Optic Atrophy Due to OPA1 Mutations

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Novel Homozygous PANK2 Mutation Identified in a Consanguineous Chinese Pedigree With Pantothenate Kinase-Associated Neurodegeneration

Biomedical Reports

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