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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Creutzfeldt-Jakob Disease in a Young Woman
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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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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