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Publications by Ann-Charlotte Wikström

Eleven Percent Intact PGM3 in a Severely Immunodeficient Patient With a Novel Splice-Site Mutation, a Case Report

English

Glucocorticoid Receptor Interaction With 14-3-3 and Raf-1, a Proposed Mechanism for Cross-Talk of Two Signal Transduction Pathways

Journal of Biological Chemistry

Molecular Biology

English

Related publications

A Novel Splice Site Mutation in WAS Gene in Patient With Wiskott-Aldrich Syndrome and Chronic Colitis: A Case Report

BMC Medical Genetics

English

A Patient Severely Affected by Spinal Neurofibromas Carries a Recurrent Splice Site Mutation in the NF1 Gene

European Journal of Human Genetics

English

A Novel Aberrant Splice Site Mutation in the APC Gene

Journal of Medical Genetics

English

A Novel Site Mutation in a Wiskott-Aldrich Syndrome Boy: A Case Report

Biomedical Journal of Scientific & Technical Research

English

A Novel BRCA1 Mutation in a Patient With Breast and Ovarian Cancer: A Case Report

Oncology Letters

Cancer Research

English

Rehabilitation of a Patient With Severely Attrited Dentition– A Case Report

International Dental Journal of Student Research

English

A Novel Splice Site Mutation inSMARCAL1results in Aberrant Exon Definition in a Child With Schimke Immunoosseous Dysplasia

American Journal of Medical Genetics, Part A

English

Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient

Endocrinology & Metabolic Syndrome

English

A Novel Frameshift Mutation in the XPC Gene in a Moroccan Patient: A Case Report

Journal of Medical Case Reports

English