Korcan Demir

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

Tülay Güran, Federica Buonocore, Nurçin Saka et al. · The Journal of Clinical Endocrinology & Metabolism · 2015 · 212 citations · Full text

Medicine, Endocrinology, Pediatrics +16

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı et al. · The Lancet Diabetes & Endocrinology · 2020 · 113 citations · Full text

Life Sciences, Endocrinology, Immunology +3

Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations

Korcan Demir, Anja L.M. van Gucht, Muammer Büyükinan et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 67 citations · Full text

Medicine, Endocrinology, Genetics +15

Thyroid dyshormonogenesis is mainly caused by <i><scp>TPO</scp></i> mutations in consanguineous community

Hakan Cangül, Zehra Aycan, Álvaro Olivera‐Nappa et al. · Clinical Endocrinology · 2012 · 66 citations

Medicine, Endocrinology, Molecular Genetics +17

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Katherina Walz, Devon Cohen, Paul M. Neilsen et al. · Human Genetics · 2014 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6