Nadia Schoenmakers
Birmingham City University(GB)University of Cambridge(GB)Wellcome/MRC Institute of Metabolic Science(GB)University of Birmingham(GB)Wellcome Trust(GB)
Publications by Year
Research Areas
Thyroid Disorders and Treatments, Growth Hormone and Insulin-like Growth Factors, Congenital heart defects research, Thyroid Cancer Diagnosis and Treatment, Genetic Syndromes and Imprinting
Most-Cited Works
- → Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans(2010)309 cited
- → An organelle-specific protein landscape identifies novel diseases and molecular mechanisms(2016)255 cited
- → Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement(2012)215 cited
- → 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism(2018)207 cited
- → DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives(2018)155 cited
- → An Adult Female With Resistance to Thyroid Hormone Mediated by Defective Thyroid Hormone Receptor α(2013)137 cited