1. Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing. (3rd March 2020) Authors: Guleray, Naz; Kosukcu, Can; Taskiran, Zihni Ekim; Simsek Kiper, Pelin Ozlem; Utine, Gulen Eda; Gucer, Safak; Tokatli, Aysegul; Boduroglu, Koray; Alikasifoglu, Mehmet Journal: Fetal and pediatric pathology Issue: Volume 39:Number 2(2020) Page Start: 163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Barraquer–Simons syndrome: A rare clinical entity. Issue 7 (1st May 2014) Authors: Simsek‐Kiper, Pelin Ozlem; Roach, Emir; Utine, Gulen Eda; Boduroglu, Koray Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1756 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3. Issue 12 (8th October 2022) Authors: Simsek‐Kiper, Pelin Ozlem; Jacob, Prince; Upadhyai, Priyanka; Taşkıran, Zihni Ekim; Guleria, Vishal S.; Karaosmanoglu, Beren; Imren, Gozde; Gocmen, Rahsan; Bhavani, Gandham S.; Kausthubham, Neethukrishna; Shah, Hitesh; Utine, Gulen Eda; Boduroglu, Koray; Girisha, Katta M. Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 2116 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. Issue 1 (16th September 2019) Authors: Buers, Insa; Persico, Ivana; Schöning, Lara; Nitschke, Yvonne; Di Rocco, Maja; Loi, Angela; Sahi, Puneet Kaur; Utine, Gulen Eda; Bayraktar‐Tanyeri, Bilge; Zampino, Giuseppe; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura Journal: Clinical genetics Issue: Volume 97:Issue 1(2020) Page Start: 209 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience. Issue 8 (10th May 2022) Authors: Kahraman, Ayca Burcu; Simsek‐Kiper, Pelin Ozlem; Utine, Gulen Eda; Boduroglu, Koray Journal: American journal of medical genetics Issue: Volume 188:Issue 8(2022) Page Start: 2367 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome. Issue 7 (13th April 2019) Authors: Simsek‐Kiper, Pelin Ozlem; Taskiran, Ekim; Kosukcu, Can; Arslan, Umut Ece; Cormier‐Daire, Valérie; Gonc, Nazlı; Ozon, Alev; Alikasifoglu, Ayfer; Kandemir, Nurgun; Utine, Gulen Eda; Alanay, Yasemin; Alikasifoglu, Mehmet; Boduroglu, Koray Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome. Issue 12 (16th August 2013) Authors: Dikoglu, Esra; Simsek‐Kiper, Pelin Ozlem; Utine, Gulen Eda; Campos‐Xavier, Belinda; Boduroglu, Koray; Bonafé, Luisa; Superti‐Furga, Andrea; Unger, Sheila Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3161 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome. Issue 12 (16th August 2013) Authors: Dikoglu, Esra; Simsek‐Kiper, Pelin Ozlem; Utine, Gulen Eda; Campos‐Xavier, Belinda; Boduroglu, Koray; Bonafé, Luisa; Superti‐Furga, Andrea; Unger, Sheila Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3161 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. Positive effects of an angiotensin II type 1 receptor antagonist in Camurati–Engelmann disease: A single case observation. Issue 10 (5th August 2014) Authors: Simsek‐Kiper, Pelin Ozlem; Dikoglu, Esra; Campos‐Xavier, Belinda; Utine, Gulen Eda; Bonafe, Luisa; Unger, Sheila; Boduroglu, Koray; Superti‐Furga, Andrea Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2667 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗