Molybdenum Cofactor Deficiency
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A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
Prenatal Exposure to Antiepileptic Drugs
Lancet 367:1467-1469, Perucca,E. &Tomson,T., 2006
MR Brain Imaging of Fucosidosis Type I
AJNR 22:777-780, Galluzzi,P.,et al, 2001
The Exercise Test in Andersen Syndrome
Arch Neurol 56:352-356, Katz,J.S.,et al, 1999
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
Neurol 46:1128-1132, Pellegrino,J.E.,et al, 1996
The Epilepsy of Trisomy 9p
Neurol 47:821-824, Stern,J.M., 1996
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
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
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The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988
Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985
Fragile X Syndrome:Associated Neurological Abnormalities & Developmental Disabilities
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Fragile X Chromosome & X-Linked Mental Retardation
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