Ernest M. Kuehl

Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

W. A. Gahl, Mark Brantly, Muriel I. Kaiser‐Kupfer et al. · New England Journal of Medicine · 1998 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A Randomized Clinical Trial of Topical Cysteamine Disulfide (Cystamine) versus Free Thiol (Cysteamine) in the Treatment of Corneal Cystine Crystals in Cystinosis

Fumino Iwata, Ernest M. Kuehl, George F. Reed et al. · Molecular Genetics and Metabolism · 1998 · 86 citations

Medicine, Ophthalmology, Pharmacotherapy +15

Three New Mutations in a Gene Causing Hermansky–Pudlak Syndrome: Clinical Correlations

Vorasuk Shotelersuk, Senator Hazelwood, David E. Larson et al. · Molecular Genetics and Metabolism · 1998 · 48 citations

Life Sciences, Genetics, Molecular Genetics +8

Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism

Fumino Iwata, George F. Reed, Rafael C. Caruso et al. · Ophthalmology · 2000 · 31 citations

Medicine, Genetics, Ophthalmology +17

Constructing retinal fundus photomontages. A new computer-based method.

Anup Mahurkar, M A Vivino, Benes L. Trus et al. · PubMed · 1996 · 27 citations

Computing, Computer Science, Ophthalmology +17