1. AB0574 A MONOGENIC DISEASE WITH WIDE RANGE OF SYMPTOMS: DEFICIENCY OF ADENOSINE DEAMINASE 2. (June 2019) Authors: Batu, Ezgi Deniz; Taskiran, Ekim Z.; Özkara, Hatice Asuman; Ünal, Şule; Guleray, Naz; Erden, Abdulsamet; Karadag, Omer; Gümrük, Fatma; Çetin, Mualla; Bilginer, Yelda; Sonmez, Hafize Emine; Ayvaz, Deniz Cagdas; Tezcan, Ilhan; Özen, Seza Journal: Annals of the rheumatic diseases Issue: Volume 78(2019)Supplement 2 Page Start: 1748 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings. Issue 11 (17th August 2021) Authors: Soyer, Tutku; Karaosmanoglu, Beren; Taskiran, Ekim Z.; Kiper, Pelin Özlem Şimşek; Karnak, İbrahim; Boduroğlu, Koray; Utine, Gülen Eda Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 11(2021) Page Start: 3427 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Effector Th1 cells under PD‐1 and CTLA‐4 checkpoint blockade abrogate the upregulation of multiple inhibitory receptors and by‐pass exhaustion. Issue 4 (25th August 2022) Authors: Horzum, Utku; Yanik, Hamdullah; Taskiran, Ekim Z.; Esendagli, Gunes Journal: Immunology Issue: Volume 167:Issue 4(2022) Page Start: 640 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs!. Issue 6 (28th February 2021) Authors: Schuch, Luise A.; Forstner, Maria; Rapp, Christina K.; Li, Yang; Smith, Desiree E. C.; Mendes, Marisa I.; Delhommel, Florent; Sattler, Michael; Emiralioğlu, Nagehan; Taskiran, Ekim Z.; Orhan, Diclehan; Kiper, Nural; Rohlfs, Meino; Jeske, Tim; Hastreiter, Maximilian; Gerstlauer, Michael; Torrent‐V... Journal: Clinical genetics Issue: Volume 99:Issue 6(2021) Page Start: 789 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis. Issue 9 (31st July 2018) Authors: Simsek‐Kiper, Pelin O.; Taskiran, Ekim Z.; Kosukcu, Can; Urel‐Demir, Gizem; Akgun‐Dogan, Ozlem; Yilmaz, Guney; Utine, Gulen E.; Nishimura, Gen; Boduroglu, Koray; Alikasifoglu, Mehmet Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 2009 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome. Issue 12 (8th October 2017) Authors: Taskiran, Ekim Z.; Karaosmanoglu, Beren; Koşukcu, Can; Doğan, Özlem A.; Taylan‐Şekeroğlu, Hande; Şimşek‐Kiper, Pelin Ö.; Utine, Eda G.; Boduroğlu, Koray; Alikaşifoğlu, Mehmet Journal: American journal of medical genetics Issue: Volume 173:Issue 12(2017) Page Start: 3143 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel insights into diabetes mellitus due to DNAJC3‐defect: Evolution of neurological and endocrine phenotype in the pediatric age group. Issue 7 (10th September 2020) Authors: Ozon, Z. Alev; Alikasifoglu, Ayfer; Kandemir, Nurgun; Aydin, Busra; Gonc, E. Nazli; Karaosmanoglu, Beren; Celik, Nur Berna; Eroglu‐Ertugrul, Nesibe G.; Taskiran, Ekim Z.; Haliloglu, Goknur; Oguz, Kader Karli; Kiper, Pelin Ozlem; Yalnizoglu, Dilek; Utine, Gulen Eda; Alikasifoglu, Mehmet Journal: Pediatric diabetes Issue: Volume 21:Issue 7(2020) Page Start: 1176 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) ↗