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Spinal Muscular Atrophy
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Congenital Cytomegalovirus Infection
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The Autosomal Recessive Cerebellar Ataxias
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Prader-Willi and Angelman Syndromes
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Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
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Causal Heterogeneity in Isolated Lissencephaly
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A Clinical Study of Noonan Syndrome
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Congenital Inflammatory Myopathy
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