1. A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features. Issue 4 (11th January 2023) Authors: Akalın, Akçahan; Şimşek‐Kiper, Pelin Özlem; Taşkıran, Ekim Z.; Karaosmanoğlu, Beren; Utine, Gülen Eda; Boduroğlu, Koray Journal: American journal of medical genetics Issue: Volume 191:Issue 4(2023) Page Start: 1119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature. Issue 10 (4th June 2021) Authors: Akalın, Akçahan; Taskiran, Ekim Z.; Şimşek‐Kiper, Pelin Özlem; Utine, Eda; Alanay, Yasemin; Özçelik, Uğur; Boduroğlu, Koray Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 3104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗