Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Coffin-Siris Syndrome, Neuropathologic Findings
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Congenital Anomalies & Herpesvirus Infection
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Spinal Muscular Atrophy
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Aromatic L-Amino Acid Decarboxylase Deficiency
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Fucosidosis Revisited:A Review of 77 Patients
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Prader-Willi-Syndrome, In Endocrine & Genetic Diseases of Childhood & Adolescence
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