Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
Ann Neurol 35:680-688, Davis,L.E.,et al, 1994
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
Neurol 39:252-257, Brown,G.K.,et al, 1989
Follow-up and Diagnostic Reappraisal of 75 Patients with Leber's Congenital Amaurosis
Am J Ophthalmol 107:624-631, Lambert,S.R.,et al, 1989
Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
Am J Med 68:122-140, Hall,J.G.,et al, 1980
Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
Am J Med 69:64-74, Whythe,M.P.,et al, 1980
Leigh's Disease in an Adult with Evidence of"Inhibitor Factor"in Family Members
Ann Neurol 3:519, Whetsell,W.O.,et al, 1978
Neurological Complications of Infantile Osteopetrosis
Ann Neurol 2:378, Lehman,R.A.W.,et al, 1977