The Cornelia de Lange Syndrome
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Agenesis of the Corpus Callosum:A Study of the Frequency of Associated Malformations
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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Neurodegeneration with Brain Iron Accumulation
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Ipsilateral Stroke in a Patient with Horizontal Gaze Palsy with Progressive Scoliosis and a Subcortical Infarct
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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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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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
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X-Linked Malformation of Neuronal Migration
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
JAMA 270:2838-2842, Dobyns,W.B.,et al, 1993
Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Causal Heterogeneity in Isolated Lissencephaly
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Physical Features of Prader-Willi Syndrome in Neonates
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Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985
The Lissencephaly, (Agyria) Syndrome in Siblings
Arch Neurol 35:608-611, Garcia,C.A.,et al, 1978
Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972