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Publications by Martina Witsch-Baumgartner

Maternal ABCA1 Genotype Is Associated With Severity of Smith–Lemli–Opitz Syndrome and With Viability of Patients Homozygous for Null Mutations

European Journal of Human Genetics

English

Marathoning With Myotonic Dystrophy Type 2 (Proximal Myotonic Myopathy) and Leukopenia

SAGE Open Medical Case Reports

English

Related publications

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

BMC Medical Genetics

English

Smith-Lemli-Opitz Syndrome

English

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

Clinical Genetics

English

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

American Journal of Medical Genetics, Part A

English

Diagnosis of Smith-Lemli-Opitz Syndrome by Ultraviolet Spectrophotometry

Brazilian Journal of Medical and Biological Research

English

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

Journal of Medical Genetics

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

Hair and Skin Sterols in Normal Mice and Those With Deficient Dehydrosterol Reductase (DHCR7), the Enzyme Associated With Smith-Lemli-Opitz Syndrome

Journal of Steroid Biochemistry and Molecular Biology

Molecular Medicine

Molecular Biology

Clinical Biochemistry

English