Gülen Eda Utine (Gülen E Utine, Eda Utine, G E Utine, Gulen Eda Utine)

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 18

Top Topics

Intellectual Disability

Clostridium Difficile

Top Venues

American journal of medical genetics. Part A

Neuropediatrics

Journal of intellectual disability research : JIDR

This page only lists publications with an associated author ORCID identifier.

Publications

Sibel Öz Yıldız, Dilek Yalnizoglu, Pelin Özlem Şimsek Kiper, Rahşan Gocmen, Merve Soğukpınar, Gülen Eda Utine, Göknur Haliloğlu
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature. Neuropediatrics 55 (3) (2024)
Sibel Öz Yıldız, Dilek Yalnizoglu, Pelin Özlem Şimsek Kiper, Rahşan Gocmen, Merve Soğukpınar, Gülen Eda Utine, Göknur Haliloğlu
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature. Neuropediatrics (2024)
Sibel Öz Yıldız, Dilek Yalnizoglu, Pelin Özlem Şimsek Kiper, Rahşan Gocmen, Merve Soğukpınar, Gülen Eda Utine, Göknur Haliloğlu
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature. Neuropediatrics 55 (3) (2024)
Sibel Öz Yıldız, Dilek Yalnizoglu, Pelin Özlem Şimsek Kiper, Rahşan Gocmen, Merve Soğukpınar, Gülen Eda Utine, Göknur Haliloğlu
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature. Neuropediatrics 55 (3) (2024)
Akçahan Akalın, Ercan Ayaz, Merve Soğukpınar, Enise Avci Durmusalioglu, Gizem Ürel-Demir, Adalet Elcin Yildiz, Tahir Atik, Nursel H Elcioglu, Gülen Eda Utine, Pelin Özlem Şimsek Kiper
Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2. American journal of medical genetics. Part A (2024)
Özge Berna Gültekin-Zaim, Gül Yalçın Çakmaklı, Ayşe İlksen Çolpak, Pelin Özlem Şimsek Kiper, Gülen Eda Utine, Bülent Elibol
Cockayne syndrome type 3 with dystonia-ataxia and clicking blinks. Movement disorders clinical practice 10 (Suppl 3) (2023)
Akçahan Akalın, Pelin Özlem Şimsek Kiper, Ekim Zihni Taşkiran, Beren Karaosmanoğlu, Gülen Eda Utine, Koray Boduroglu
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features. American journal of medical genetics. Part A 191 (4) (2023)
Akçahan Akalın, Pelin Özlem Şimsek Kiper, Ekim Zihni Taşkiran, Beren Karaosmanoğlu, Gülen Eda Utine, Koray Boduroglu
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features. American journal of medical genetics. Part A 191 (4) (2023)
Akçahan Akalın, Pelin Özlem Şimsek Kiper, Ekim Zihni Taşkiran, Beren Karaosmanoğlu, Gülen Eda Utine, Koray Boduroglu
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features. American journal of medical genetics. Part A (2023)
Akçahan Akalın, Pelin Özlem Şimsek Kiper, Ekim Zihni Taşkiran, Beren Karaosmanoğlu, Gülen Eda Utine, Koray Boduroglu
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features. American journal of medical genetics. Part A 191 (4) (2023)
Merve Soğukpınar, Pelin Özlem Şimsek Kiper, Can Koşukcu, Ekim Zihni Taşkiran, Inci Nur Saltik Temizel, Kadri Safak Gucer, Gülen Eda Utine, Koray Boduroglu
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review. Pediatric gastroenterology, hepatology & nutrition 25 (6) (2022)
Hande Taylan Şekeroğlu, Gülen Eda Utine
Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing Turkish journal of ophthalmology 51 (2) (2021)
Tibbe Dhooge, Tim Van Damme, Delfien Syx, Laura Muiño Mosquera, Sheela Nampoothiri, Anil Radhakrishnan, Pelin Özlem Şimsek Kiper, Gülen Eda Utine, Maryse Bonduelle, Isabelle Migeotte, Osama Essawi, Serdar Ceylaner, Adila Al Kindy, Brad Tinkle, Sofie Symoens, Fransiska Malfait
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. Human mutation 42 (6) (2021)
Erdem Kindis, Pelin Özlem Şimsek Kiper, Can Koşukcu, Ekim Zihni Taşkiran, Rahşan Gocmen, Gülen Eda Utine, Göknur Haliloğlu, Koray Boduroglu, Mehmet Alikaşifoğlu
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features. American journal of medical genetics. Part A 185 (6) (2021)
S Oğuz, U E Arslan, P Ö Ş Kiper, M Alikaşifoğlu, K Boduroğlu, Gülen Eda Utine
Diagnostic yield of microarrays in individuals with non-syndromic developmental delay and intellectual disability. Journal of intellectual disability research : JIDR 65 (12) (2021)
Ekim Zihni Taşkiran, Beren Karaosmanoğlu, C Koşukcu, G Ürel-Demir, Ö Akgün-Doğan, P Ö Şimşek-Kiper, M Alikaşifoğlu, K Boduroğlu, Gülen Eda Utine
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability. Journal of intellectual disability research : JIDR 65 (6) (2021)
Neslihan Akdogan, Erdem Kindis, Ecem Bostan, Gülen Eda Utine, Mehmet Alikasifoglu, Sibel Ersoy-Evans
Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis. Journal of clinical immunology 40 (6) (2020)
Esra Isik, Duygu Arican, Tahir Atik, Joo Enn Ooi, Şükran Darcan, Samim Özen, Pelin Özlem Şimsek Kiper, Gülen Eda Utine, Ozgur Cogulu, Ferda Özkınay
A rare cause of syndromic short stature: 3M syndrome in three families. American journal of medical genetics. Part A 185 (2) (2020)