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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Does Carnitine Admin Inprove Symptoms Attributed to Anticonvulsant Meds? Double-Blinded Study
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Cardioskeletal Mitochondrial Myopathy Associated with Chronic Magnesium Deficiency
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A Clinical Study of Noonan Syndrome
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