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Congenital Brain Anomalies Associated with the Hypoplastic Left Heart Syndrome
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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The Exercise Test in Andersen Syndrome
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Prader-Willi and Angelman Syndromes
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Fetal Alcohol Syndrome and Fetal Alcohol Effects
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A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
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