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Showing articles 0 to 18 of 18

Filter Applied: genetic neurologic disorders (Click to remove)

A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018

Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014

Chediak-Higashi Syndrome: Pathognomonic Feature
Lancet 382:1514, Antunes, H.,et al, 2013

Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995

Aicardi's Syndrome:MR Appearance of Unusual Orbital and Ventricular Cystic Lesions
AJR 160:601-603, Mehta,r.C.,et al, 1993

Cerebrovascular Disease in Ehlers-Danlos Syndrome Type IV
Stroke 21:626-632, Schievink,W.I.,et al, 1990

Anderson-Fabry Disease
Editorial, Lancet 336:24-251990., , 1990

Acute Intermittent Porphyria
JAMA 264:1290-1293, 1315-13161990., Sack,G.H., 1990

Clinicopath Conf
Mastoiditis with Right Transverse-Sinus and Sigmoid-Sinus Thrombosis, Case Record 20-1988, NEJM 318:, 321328,1988., 1988

Von Hippel-Lindau Disease in an Adolescent
Pediatrics 79:632-637, Seitz,M.L.,et al, 1987

Ocular Complications of Tangier Disease
Am J Med 83:991-994, Pressley,T.A.,et al, 1987

Clinicopathological Conference
Case 2-1984, Fabry's Disease, NEJM 310:106-114984., , 1984

Clin. Path. Conference
Coproporphyria with Polyneuropathy, Case Record 39-1984, NEJM 311:839-847984., , 1984

Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
Am J Med 69:64-74, Whythe,M.P.,et al, 1980

Familial Hypopituitarism with Large Sella Turcica
NEJM 298:698, Parks,J.S.,et al, 1978

Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972



Showing articles 0 to 18 of 18