Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Marfan Syndrome
NEJM 300:772-777, Pyeritz,R.E.,et al, 1979
Gyrate Atrophy of the Choroid & Retina with Hyperornithinemia:Tubular Aggreg. & Type 2 Fiber Atrophy
Neurol 29:966, Sipila,I.,et al, 1979
Movement Phosphenes in Optic Neuritis:A New Clinical Sign
Neurol 26:1100, Davis,F.A.,et al, 1976
Misdiagnosis of Spasm of the Near Reflex
Neurol 26:1018, Griffin,J.F.,et al, 1976
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972