Ezgi Gökpinar İli (Ezgi Gökpınar İli, Ezgi Gökpınar İli)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 5

Top Topics

Chronic Kidney Disease

Pulmonary Embolism

Top Venues

American journal of medical genetics. Part A

Circulation. Cardiovascular imaging

Revista da Associacao Medica Brasileira (1992)

Journal of pediatric endocrinology & metabolism : JPEM

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

Publications

Emel Hatun Aytac, Alper Gezdirici, Zümrüt Kocabey Sütçü, Ezgi Gökpinar İli
A novel variant of the STAR gene: nonclassical presentation from Turkey. Journal of pediatric endocrinology & metabolism : JPEM (2024)
Cüneyd Yavaş, Cemal Un, Evrim Çelebi, Alper Gezdirici, Mustafa Doğan, Ezgi Gökpinar İli, Tunay Doğan, Nehir Özdemir Özgentürk
Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome. Revista da Associacao Medica Brasileira (1992) 68 (9) (2022)
Ezgi Gökpinar İli, Elifcan Taşdelen, Ceren Damla Durmaz, Şule Altıner, Timur Tuncalı, Victor Martinez-Glez, Halil Gürhan Karabulut, Seçil Vural, Serdar Ceylaner, Mustafa Oğuz Acar, Hatice Ilgın Ruhi
Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS). American journal of medical genetics. Part A 188 (6) (2022)
Ezgi Gökpinar İli, Alper Gezdirici, Erminia Di Pietro, Christine Yergeau, Nancy Braverman
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature. American journal of medical genetics. Part A 188 (11) (2022)
Mehmet Rasih Sonsöz, Ezgi Gökpinar İli, Alper Gezdirici, Cagdas Topel, Gökhan Kahveci, Helen Bornaun
A Rare Cause of Syncope: Naxos Disease Caused by Novel Homozygous Deletion in the JUP Gene. Circulation. Cardiovascular imaging 14 (10) (2021)