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Publications by Simon D. Gerber

Deletion of Exon 8 From the EXT1 Gene Causes Multiple Osteochondromas (MO) in a Family With Three Affected Members

Multidisciplinary

English

Related publications

Deletion of a Branch-Point Consensus Sequence in the LMX1B Gene Causes Exon Skipping in a Family With Nail Patella Syndrome

European Journal of Human Genetics

English

An Exon 10 Deletion in the Mouse Ferrochelatase Gene Has a Dominant-Negative Effect and Causes Mild Protoporphyria

English

Detection of a Novel Exon 4 Low-Density Lipoprotein Receptor Gene Deletion in a Swiss Family With Severe Familial Hypercholesterolemia

Clinical Chemistry and Laboratory Medicine

Clinical Biochemistry

English

Homozygous Intragenic Deletion of Type I Hexokinase Gene Causes Lethal Hemolytic Anemia of the Affected Fetus

English

Disruption of the Neuronal PAS3 Gene in a Family Affected With Schizophrenia

Journal of Medical Genetics

English

A Novel Mutation (A886g) in Exon 5 of FGFR2 in Members of a Family With Crouzon Phenotype and Plagiocephaly.

Journal of Medical Genetics

English

Novel EXT1 Mutation Identified in a Pedigree With Hereditary Multiple Exostoses

Oncology Reports

Cancer Research

English

An ANK1 IVS3-2A>C Mutation Causes Exon 4 Skipping in Two Patients From a Chinese Family With Hereditary Spherocytosis

English

CRISPR/Cas9-mediated Editing of GABRR2 Gene in RGC-5 Cells Induces Random Exon Deletion, Exon Splicing and New Exon Recruitment

Biochemical Engineering Journal

Environmental Engineering

Biomedical Engineering

English