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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Neurofibromatosis Type 2
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Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Dopamine-Responsive Dystonia
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Advances in the Genetics of Cerebrovascular Disease and Stroke
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Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
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Phenotypic Heterogen in Hered Neurop with Liability to Press Palsies Assoc with Chromosome 17p11. 2-12 Delet
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The Epilepsy of Trisomy 9p
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
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X-Chromosome Effects on Female Brain:A Magnetic Resonance Imaging Study of Turner's Syndrome
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Causal Heterogeneity in Isolated Lissencephaly
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Angelman Syndrome: Clinical Profile
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Cesarean Section Before Onset of Labor & Motor Function in Infants with Meningomyelocele Diag Antenatally
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Brain Tumors
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
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Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
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The Lissencephaly, (Agyria) Syndrome in Siblings
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