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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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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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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
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Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
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Causal Heterogeneity in Isolated Lissencephaly
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Agenesis of the Corpus Callosum:A Study of the Frequency of Associated Malformations
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The Lissencephaly, (Agyria) Syndrome in Siblings
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Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972
The Cornelia de Lange Syndrome
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