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Publications by J. A. Van Gerpen

MRI Characteristics and Scoring in HDLS Due to CSF1R Gene Mutations

English

Leukoencephalopathy With Spheroids (HDLS) and Pigmentary Leukodystrophy (POLD): A Single Entity?

English

Related publications

Thyroid Defects Due to Pax8 Gene Mutations

European Journal of Endocrinology

English

Limb-Girdle Muscular Dystrophy Due to Emerin Gene Mutations

Archives of Neurology

English

Tetrahydrobiopterin-Responsive Hyperphenylalaninaemia Due to Homozygous Mutations in the Phenylalanine Hydroxylase Gene

European Journal of Pediatrics

English

Erratum To: Clinical and Molecular Genetics of Neonatal Diabetes Due to Mutations in the Insulin Gene

Reviews in Endocrine and Metabolic Disorders

English

Genotype–phenotype Correlation in Inherited Brain Myelination Defects Due to Proteolipid Protein Gene Mutations

European Journal of Human Genetics

English

HDLs in Crises

Current Opinion in Lipidology

Molecular Biology

Cardiovascular Medicine

English

Familial Hyperthyroidism Due to Mutations in TSH Receptor

English

Childhood Somatotroph Pituitary Adenomas Due to Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations

Endocrine Abstracts

English

Clinical and Genetic Characteristics of Cardiac Actin Gene Mutations in Hypertrophic Cardiomyopathy

Journal of Medical Genetics

English