1. A Case of 22q11.2 Deletion Syndrome with Right Microphthalmia and Left Corneal Staphyloma. (December 2014) Authors: Tarlan, Berçin; Kiratli, Hayyam; Kılıç, Esra; Utine, Eda; Boduroğlu, Koray Journal: Ophthalmic genetics Issue: Volume 35:Number 4(2014:Dec.) Page Start: 248 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. Issue 3 (5th October 2016) Authors: Koehler, Katrin; Milev, Miroslav P.; Prematilake, Keshika; Reschke, Felix; Kutzner, Susann; Jühlen, Ramona; Landgraf, Dana; Utine, Eda; Hazan, Filiz; Diniz, Gulden; Schuelke, Markus; Huebner, Angela; Sacher, Michael Journal: Journal of medical genetics Issue: Volume 54:Issue 3(2017) Page Start: 176 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A rare cause of syndromic short stature: 3M syndrome in three families. Issue 2 (30th November 2020) Authors: Isik, Esra; Arican, Duygu; Atik, Tahir; Ooi, Joo Enn; Darcan, Sukran; Ozen, Samim; Simsek Kiper, Pelin Ozlem; Utine, Eda; Cogulu, Ozgur; Ozkinay, Ferda Journal: American journal of medical genetics Issue: Volume 185:Issue 2(2021) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Apparent mineralocorticoid excess: A diagnosis beyond classical causes of severe hypertension in a child. Issue 3 (17th January 2022) Authors: Gulhan, Bora; Ünsal, Yağmur; Baltu, Demet; Çelik Ertaş, Nur Berna; Özdemir, Gülşah; Utine, Eda; Ozcan, H. Nursun; Duzova, Ali; Gönç, Nazli Journal: Blood pressure monitoring Issue: Volume 27:Issue 3(2022) Page Start: 208 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features. Issue 6 (22nd March 2021) Authors: Kındış, Erdem; Simsek‐Kiper, Pelin Özlem; Koşukcu, Can; Taşkıran, Ekim Z.; Göçmen, Rahşan; Utine, Eda; Haliloğlu, Göknur; Boduroğlu, Koray; Alikaşifoğlu, Mehmet Journal: American journal of medical genetics Issue: Volume 185:Issue 6(2021) Page Start: 1888 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Impact of mannose‐binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in children. Issue 5 (2nd March 2020) Authors: Dogru, Deniz; Polat, Sanem E.; Tan, Çağman; Tezcan, İlhan; Yalçın, Sıddıka S.; Utine, Eda; Oğuz, Berna; Yaz, İsmail; Emiralioğlu, Nagehan; Hızal, Mina; Yalçın, Ebru; Özçelik, Uğur; Çağdaş, Deniz; Kiper, Nural Journal: Pediatric pulmonology Issue: Volume 55:Issue 5(2020) Page Start: 1190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Partial distal aphalangia, duplication of metatarsal IV, microcephaly, and borderline intelligence. Issue 1 (January 2015) Authors: Ozsurekci, Yasemin; Komurluoglu, Ayca; Aytac, Selin; Oguz, Kader K.; Utine, Eda; Ceyhan, Mehmet Journal: Clinical dysmorphology Issue: Volume 24:Issue 1(2015:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis. Issue 2 (17th September 2013) Authors: Unal, Sule; Alanay, Yasemin; Cetin, Mualla; Boduroglu, Koray; Utine, Eda; Cormier‐Daire, Valerie; Huber, Celine; Ozsurekci, Yasemin; Kilic, Esra; Simsek Kiper, Ozlem Pelin; Gumruk, Fatma Journal: Pediatric blood & cancer Issue: Volume 61:Issue 2(2014:Feb.) Page Start: 302 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. Issue 2 (5th November 2013) Authors: Alanay, Yasemin; Ergüner, Bekir; Utine, Eda; Haçarız, Orçun; Kiper, Pelin Ozlem Simsek; Taşkıran, Ekim Zihni; Perçin, Ferda; Uz, Elif; Sağıroğlu, Mahmut Şamil; Yuksel, Bayram; Boduroglu, Koray; Akarsu, Nurten Ayse Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 291 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗