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Publications by JS Waye

The Smith-Lemli-Opitz Syndrome: A Novel Metabolic Way of Understanding Developmental Biology, Embryogenesis, and Dysmorphology

Clinical Genetics

English

Related publications

Smith-Lemli-Opitz Syndrome

English

Diagnosis of Smith-Lemli-Opitz Syndrome by Ultraviolet Spectrophotometry

Brazilian Journal of Medical and Biological Research

English

Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome

Internal Medicine

Molecular Biology

English

A Membrane Defect in the Pathogenesis of the Smith-Lemli-Opitz Syndrome

Journal of Lipid Research

English

De Novo 2q+ Masquerading as Smith-Lemli-Opitz Syndrome.

Journal of Medical Genetics

English

Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome Patients

American Journal of Medical Genetics, Part A

English

Pregnancy in an Individual With Mild Smith-Lemli-Opitz Syndrome

Clinical Genetics

English

The p.Phe174Ser Mutation Is Associated With Mild Forms of Smith Lemli Opitz Syndrome

BMC Medical Genetics

English

Enhanced Placental Cholesterol Efflux by Fetal HDL in Smith–Lemli–Opitz Syndrome

Molecular Genetics and Metabolism

Molecular Biology

English