Axial Myopia (A Neglected Cause of Proptosis)
Arch Neurol 35:237, Osher,R.H.,et al, 1978
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
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Muscle-Eye-Brain Disease:A Neuropathological Study
Ann Neurol 41:173-180, Haltia,M.,et al, 1997
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
The Neurotoxicity of Antibacterial Agents
Ann Int Med 101:92-104, Snavely,S.R.,et al, 1984
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972