Publications by authors named "Amy H Thompson"

4Publications

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Ophthalmology 2018 12 25;125(12):1937-1952. Epub 2018 Jul 25.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; Johns Hopkins University School of Medicine, Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Baltimore, Maryland.

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December 2018

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

Ophthalmology 2016 Mar 26;123(3):571-82. Epub 2016 Jan 26.

National Human Genome Research Institute, Genetics and Molecular Biology Branch, National Institutes of Health, Bethesda, Maryland.

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March 2016