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Publications by Simona E. Bianconi
Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome Patients
American Journal of Medical Genetics, Part A
Genetics
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Smith-Lemli-Opitz Syndrome
Diagnosis of Smith-Lemli-Opitz Syndrome by Ultraviolet Spectrophotometry
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Pregnancy in an Individual With Mild Smith-Lemli-Opitz Syndrome
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De Novo 2q+ Masquerading as Smith-Lemli-Opitz Syndrome.
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Enhanced Placental Cholesterol Efflux by Fetal HDL in Smith–Lemli–Opitz Syndrome
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Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome
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A Membrane Defect in the Pathogenesis of the Smith-Lemli-Opitz Syndrome
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Effects of Dietary Cholesterol on Plasma Lipoproteins in Smith-Lemli-Opitz Syndrome
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The p.Phe174Ser Mutation Is Associated With Mild Forms of Smith Lemli Opitz Syndrome
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