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Publications by J. Fielding Hejtmancik

Mutation in the Intracellular Chloride Channel CLCC1 Associated With Autosomal Recessive Retinitis Pigmentosa

Molecular Biology

Cancer Research

English

Novel Truncation Mutations in MYRF Cause Autosomal Dominant High Hyperopia Mapped to 11p12–q13.3

English

Evaluation of SNPs on Chromosome 2p With Primary Open Angle Glaucoma in the South Indian Cohort

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Hexokinase 1 and Retinitis Pigmentosa: Insights Into the Retina and the Molecule

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients With Leber Congenital Amaurosis

Multidisciplinary

English

A Novel MIP Gene Mutation Analysis in a Chinese Family Affected With Congenital Progressive Punctate Cataract

Multidisciplinary

English

Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

American Journal of Human Genetics

English

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

American Journal of Human Genetics

English

Congenital Cataracts and Their Molecular Genetics

Seminars in Cell and Developmental Biology

Developmental Biology

English

A 5-Base Insertion in the γC-crystallin Gene Is Associated With Autosomal Dominant Variable Zonular Pulverulent Cataract

English