Hülya Kayserilli

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification and Functional Assessment of Novel and Known Insulin Receptor Mutations in Five Patients with Syndromes of Severe Insulin Resistance

J. A. Maassen, Edward S. Tobias, Hülya Kayserilli et al. · The Journal of Clinical Endocrinology & Metabolism · 2003 · 39 citations · Full text

Life Sciences, Endocrinology, Genetics +17

An Insulin Receptor Mutant (Asp707→ Ala), Involved in Leprechaunism, Is Processed and Transported to the Cell Surface but Unable to Bind Insulin

Leen M. ‘t Hart, Dick Lindhout, Gerard C.M. van der Zon et al. · Journal of Biological Chemistry · 1996 · 28 citations · Full text

Life Sciences, Endocrinology, Molecular Biology +12