A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
Adams & Victors Principles of Neurology Chp 40, pg 1156, Ropper, A.H.,et al, 2014
Prenatal Exposure to Antiepileptic Drugs
Lancet 367:1467-1469, Perucca,E. &Tomson,T., 2006
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Ischemic Stroke and Intracranial Multifocal Cerebral Arteriopathy in Williams Syndrome
J Pediatr 126:945-958, Soper,R.,et al, 1995
Fetal Alcohol Syndrome and Fetal Alcohol Effects
Comm of Substance Abuse & Comm on Children with Disabilitites, Pediatrics 91:1004-100693., , 1993
Fetal Alcohol Syndrome in Adolescents and Adults
JAMA 265:1961-1967, Streissguth,A.P.,et al, 1991
Congenital Brain Anomalies Associated with the Hypoplastic Left Heart Syndrome
Pediatrics 85:984-990, Glauser,T.A.,et al, 1990
Prenatal Prediction of Risk of the Fetal Hydantoin Syndrome
NEJM 322:1567-1572, Buehler,B.A.,et al, 1990
Minor Anomalies in Offspring of Epileptic Mothers
J Pediatr 112:521-529, 579-5811988., Gaily,E.,et al, 1988
Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985
Natural History of the Fetal Alcohol Syndrome:A 10-Year Follow-Up of Eleven Patients
Lancet 2:85-91, Streissguth,A.P.,et al, 1985
Fragile X Chromosome & X-Linked Mental Retardation
CMA Journal 127:123-126, Larbrisseau,A.,et al, 1982
Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
Ann Neurol 2:473, deLeon,G.A.,et al, 1977
The Cornelia de Lange Syndrome
J Pediatr 63:1000-1020, Ptacek,L.J., 1963