Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Anja L Frederiksen

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

Endocrinology & Metabolic Syndrome

English

Related publications

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

European Journal of Human Genetics

English

A Case of Allgrove Syndrome With a Novel IVS7 +1 G>A Mutation of the AAAS Gene

Clinical Pediatric Endocrinology

English

A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine

Molecular Biology

English

A Novel POLG Gene Mutation in a Patient With SANDO

Journal of Experimental and Integrative Medicine

Alternative Medicine

English

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

Frontiers in Pediatrics

English

A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1

Annals of Pediatric Endocrinology and Metabolism

English

A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome

Frontiers in Medicine

English

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

Journal of Medical Case Reports

English

Novel Mutation in the RNASEH1 Gene in a Chronic Progressive External Ophthalmoplegia Patient

Canadian Journal of Ophthalmology

English