Ezgi Gökpınar İli
6PUBLICATIONS
20CO-AUTHORS
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Publications (6)
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|Nov 11, 2024
Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion.Ahmet Kablan, Esma Ertürkmen Aru, Süleyman Atar
|Jul 23, 2024
A novel variant of the STAR gene: nonclassical presentation from Turkey.Emel Hatun Aytaç Kaplan, Alper Gezdirici, Zümrüt Kocabey Sütçü
|Sep 22, 2022
Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome.Cüneyd Yavaş, Cemal Ün, Evrim Çelebi
|Aug 20, 2022
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.Ezgi Gökpınar İli, Alper Gezdirici, Erminia Di Pietro
|Mar 03, 2022
Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).Ezgi Gökpınar İli, Elifcan Taşdelen, Ceren Damla Durmaz
|Sep 30, 2021
A Rare Cause of Syncope: Naxos Disease Caused by Novel Homozygous Deletion in the JUP Gene.Mehmet Rasih Sonsöz, Ezgi Gökpinar İli, Alper Gezdirici
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Frequent Collaborators
2 joint publications
Alper Gezdirici
1 joint publications
Mehmet Rasih Sonsöz
1 joint publications
Helen Bornaun
1 joint publications
Cüneyd Yavaş
1 joint publications
Cemal Ün
1 joint publications
Evrim Çelebi
1 joint publications
Mustafa Doğan
1 joint publications
Tunay Doğan
1 joint publications
Nehir Özdemir Özgentürk
1 joint publications
Emel Hatun Aytaç Kaplan
