Charlotte A. Heinen

Optimization of the Cutoff Value for the Aspergillus Double-Sandwich Enzyme Immunoassay

Johan Maertens, Rob Klont, Christine Masson et al. · Clinical Infectious Diseases · 2007 · 176 citations

The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

Sjoerd D. Joustra, Nadia Schoenmakers, Luca Persani et al. · The Journal of Clinical Endocrinology & Metabolism · 2013 · 102 citations · Full text

Mutations in <i>TBL1X</i> Are Associated With Central Hypothyroidism

Charlotte A. Heinen, Monique Losekoot, Yu Sun et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 92 citations · Full text

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

Sjoerd D. Joustra, Charlotte A. Heinen, Nadia Schoenmakers et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 87 citations · Full text

A specific mutation in <i>TBL1XR1</i> causes Pierpont syndrome

Charlotte A. Heinen, Aldo Jongejan, Peter J. Watson et al. · Journal of Medical Genetics · 2016 · 67 citations · Full text