Eda Ütine
Hacettepe University(TR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Neurogenetic and Muscular Disorders Research, Ubiquitin and proteasome pathways, Connective tissue disorders research
Most-Cited Works
- → Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization(2010)178 cited
- → A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima(2016)54 cited
- → Is Dandy-Walker malformation associated with “distal 13q deletion syndrome”? Findings in a fetus supporting previous observations(2005)37 cited
- → A multidisciplinary approach to the management of individuals with fragile X syndrome(2007)36 cited
- → TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia(2013)33 cited
- → Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis(2013)23 cited
- → Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features(2021)17 cited
- → TAP1 and TAP2 gene polymorphisms in childhood cystic echinococcosis(2010)16 cited
- → Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II)(2012)16 cited
- Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.(2012)