Glycogen-Storage Disease Type II
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Prader-Willi and Angelman Syndromes
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
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Fucosidosis Revisited:A Review of 77 Patients
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Acid Maltase Deficiency
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Neurological Findings in Patients with the Fragile-X Syndrome
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The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.E.,et al, 1984
Prenatal Diagnosis of Fragile X Chromosome
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Prenatal Genetic Diagnosis in 3000 Amniocenteses
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