1. A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy. (November 2013) Authors: Unal, Ozlem; Orhan, Diclehan; Ostergaard, Elsebet; Tokatli, Aysegul; Dursun, Ali; Ozturk-Hismi, Burcu; Coskun, Turgay; Wibrand, Flemming; Kalkanoglu-Sivri, H. Serap Journal: Journal of child neurology Issue: Volume 28:Number 11(2013) Page Start: 1505 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation. Issue 1 (January 2017) Authors: Dursun, Ali; Yalnizoglu, Dilek; Gerdan, Omer F.; Yucel-Yilmaz, Didem; Sagiroglu, Mahmut S.; Yuksel, Bayram; Gucer, Safak; Sivri, Serap; Ozgul, Riza K. Journal: Clinical dysmorphology Issue: Volume 26:Issue 1(2017:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect. Issue 1 (11th September 2019) Authors: Dursun, Ali; Yalnızoğlu, Dilek; Özgül, Rıza K.; Karlı Oğuz, Kader; Yücel‐Yılmaz, Didem Journal: American journal of medical genetics Issue: Volume 183:Issue 1(2020) Page Start: 3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect. Issue 2 (30th January 2019) Authors: Yalnızoǧlu, Dilek; Özgül, R. Köksal; Oǧuz, Kader K.; Özer, Buǧra; Yücel‐Yılmaz, Didem; Gürbüz, Berrak; Serdaroǧlu, Esra; Erol, İlknur; Topçu, Meral; Dursun, Ali Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 2(2019) Page Start: 381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Generalized Repeated Integration by Parts. Issue 5 (10th May 2022) Authors: Dursun, Ali Journal: American Mathematical Monthly Issue: Volume 129:Issue 5(2022) Page Start: 485 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe. Issue 4 (25th January 2020) Authors: Yıldız, Yılmaz; Arslan, Mutluay; Çelik, Gökalp; Kasapkara, Çiğdem Seher; Ceylaner, Serdar; Dursun, Ali; Sivri, Hatice Serap; Coşkun, Turgay; Tokatlı, Ayşegül Journal: American journal of medical genetics Issue: Volume 182:Issue 4(2020) Page Start: 705 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genotypic‐phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey. Issue 11 (8th September 2017) Authors: Kılıç, Mustafa; Dursun, Ali; Coşkun, Turgay; Tokatlı, Ayşegül; Özgül, Rıza K.; Yücel‐Yılmaz, Didem; Karaca, Mehmet; Doğru, Deniz; Alehan, Dursun; Kadayıfçılar, Sibel; Genç, Aydan; Turan‐Dizdar, Handan; Gönüldaş, Burhanettin; Savcı, Sema; Sağlam, Melda; Aksoy, Cemalettin; Arslan, Umut; Sivri, Hati... Journal: American journal of medical genetics Issue: Volume 173:Issue 11(2017) Page Start: 2954 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia. (June 2016) Authors: Masuho, Ikuo; Fang, Mingyan; Geng, Chunyu; Zhang, Jianguo; Jiang, Hui; Özgul, Riza Köksal; Yılmaz, Didem Yücel; Yalnızoğlu, Dilek; Yüksel, Deniz; Yarrow, Anna; Myers, Angela; Burn, Sabrina C.; Crotwell, Patricia L.; Padilla-Lopez, Sergio; Dursun, Ali; Martemyanov, Kirill A.; Kruer, Michael C. Journal: Neurology Issue: Volume 2:Number 3(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings. Issue 3 (4th June 2021) Authors: Yıldız, Yılmaz; Koşukcu, Can; Aygün, Damla; Akçaboy, Meltem; Öztek Çelebi, Fatma Zehra; Taşcı Yıldız, Yasemin; Şahin, Gülseren; Aytekin, Caner; Yüksel, Deniz; Lay, İncilay; Özgül, Rıza Köksal; Dursun, Ali Journal: Clinical genetics Issue: Volume 100:Issue 3(2021) Page Start: 308 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Imaging liver nodules in tyrosinemia type-1: A retrospective review of 16 cases in a tertiary pediatric hospital. Issue 116 (July 2019) Authors: Ozcan, H. Nursun; Karcaaltincaba, Musturay; Pektas, Emine; Sivri, H. Serap; Oguz, Berna; Dursun, Ali; Tokatli, Aysegul; Coskun, Turgay; Haliloglu, Mithat Journal: European journal of radiology Issue: Issue 116(2019) Page Start: 41 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗