Eda Ütine

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Andrew R. Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker et al. · Nature Genetics · 2010 · 178 citations · Full text

Urology, Autoimmune Disease, Cholestasis Syndrome Phenotype +13

A novel <i>TRAPPC11</i> mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima

Katrin Koehler, Miroslav P. Milev, Keshika Prematilake et al. · Journal of Medical Genetics · 2016 · 54 citations

A multidisciplinary approach to the management of individuals with fragile X syndrome

Yasemin Alanay, Fatih Ünal, Güzide Turanlı et al. · Journal of Intellectual Disability Research · 2007 · 36 citations

Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis

Şule Ünal, Yasemin Alanay, Mualla Çetin et al. · Pediatric Blood & Cancer · 2013 · 23 citations

Further expanding the mutational spectrum of <scp>brain abnormalities, neurodegeneration, and dysosteosclerosis</scp>: A rare disorder with neurologic regression and skeletal features

Erdem Kındış, Pelin Özlem Şimşek‐Kiper, Can Koşukçu et al. · American Journal of Medical Genetics Part A · 2021 · 17 citations