The Tuberous Sclerosis Complex
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Molecular Genetics in Neurology
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Genome Sequencing in the NICU and PICU is Here to Stay
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Spinal Muscular Atrophy
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Newborn Screening for Fragile X Syndrome
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Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
Lancet 380:1674-1682, Rauch, A.,et al, 2012
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Adrenoleukodystrophy
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What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Experience with Screening Newborns for Duchenne Muscular Dystrophy in Wales
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Gene Studies in Newborn Males with Duchenne Muscular Dystrophy Detected by Neonatal Screening
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Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
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