Mehmet Tekman

A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Niccolò E. Mencacci, Ignacio Rubio‐Agusti, Anselm A. Zdebik et al. · The American Journal of Human Genetics · 2015 · 139 citations · Full text

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

Óscar Rubio Cabezas, Sarah E. Flanagan, Horia Stanescu et al. · Journal of the American Society of Nephrology · 2017 · 111 citations · Full text

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

Markus Reichold, Enriko Klootwijk, Jörg Reinders et al. · Journal of the American Society of Nephrology · 2018 · 87 citations · Full text

Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue—a case series and genetic exploration

Dorota Rowczenio, Daniela Iancu, Hadija Trojer et al. · Lara D. Veeken · 2016 · 63 citations

Noncoding deletions reveal a gene that is critical for intestinal function

Danit Oz-Levi, Tsviya Olender, Ifat Bar-Joseph et al. · Nature · 2019 · 39 citations · Full text

Systems Biology, Intestinal Function, Genetics +9