Molybdenum Cofactor Deficiency
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Prader-Willi and Angelman Syndromes
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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A Clinical Study of Noonan Syndrome
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Neurological Findings in Patients with the Fragile-X Syndrome
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Fragile X Chromosome & X-Linked Mental Retardation
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Ischemic Stroke and Intracranial Multifocal Cerebral Arteriopathy in Williams Syndrome
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Fetal Alcohol Syndrome and Fetal Alcohol Effects
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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
Coffin-Siris Syndrome, Neuropathologic Findings
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Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983
Brain Abnormalities in Infants with Fotter Syndrome (oligohydramnios tetrad)
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Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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