A Clinical Study of Noonan Syndrome
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Spinal Muscular Atrophy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Glycogen-Storage Disease Type II
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Prader-Willi and Angelman Syndromes
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Mental Development of 2-Year-Old Children Exposed to Alcohol in Utero
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Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
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Fucosidosis Revisited:A Review of 77 Patients
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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Growth & Development in Children with Sickle-Cell Trait
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A Comparison of the Physical & Intellectual Development of Black Children with & without Sickle-Cell Trait
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Prader-Willi-Syndrome, In Endocrine & Genetic Diseases of Childhood & Adolescence
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Congenital Anomalies & Herpesvirus Infection
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