1. A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood. (October 2017) Authors: Yildiz, Edibe Pembegul; Yesil, Gozde; Ozkan, Melis Ulak; Bektas, Gonca; Caliskan, Mine; Ozmen, Meral Journal: Seizure Issue: Volume 51(2017) Page Start: 77 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Action myoclonus-renal failure syndrome: Electrophysiological analysis and clinical progression of two siblings. (June 2022) Authors: Tanriverdi, Uygur; Ser, Merve Hazal; Yesil, Gozde; Gunduz, Aysegul; Ozkara, Cigdem; Kiziltan, Meral E. Journal: Parkinsonism & related disorders Issue: Volume 99(2022) Page Start: 73 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Issue 10 (13th August 2019) Authors: Karaca, Ender; Posey, Jennifer E.; Bostwick, Bret; Liu, Pengfei; Gezdirici, Alper; Yesil, Gozde; Coban Akdemir, Zeynep; Bayram, Yavuz; Harms, Frederike L.; Meinecke, Peter; Alawi, Malik; Bacino, Carlos A.; Sutton, V. Reid; Kortüm, Fanny; Lupski, James R. Journal: American journal of medical genetics Issue: Volume 179:Issue 10(2019) Page Start: 2056 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C. Issue 1 (1st December 2021) Authors: Cicek, Dilek; Warr, Nick; Yesil, Gozde; Kocak Eker, Hatice; Bas, Firdevs; Poyrazoglu, Sukran; Darendeliler, Feyza; Direk, Gul; Hatipoglu, Nihal; Eltan, Mehmet; Yavas Abali, Zehra; Gurpinar Tosun, Busra; Kaygusuz, Sare Betul; Seven Menevse, Tuba; Helvacioglu, Didem; Turan, Serap; Bereket, Abdullah... Journal: European journal of endocrinology Issue: Volume 186:Issue 1(2022) Page Start: 65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations. Issue 10 (26th July 2013) Authors: Iida, Aritoshi; Simsek‐Kiper, Pelin Özlem; Mizumoto, Shuji; Hoshino, Touma; Elcioglu, Nursel; Horemuzova, Eva; Geiberger, Stefan; Yesil, Gozde; Kayserili, Hülya; Utine, Gülen Eda; Boduroglu, Koray; Watanabe, Shigehiko; Ohashi, Hirofumi; Alanay, Yasemin; Sugahara, Kazuyuki; Nishimura, Gen; Ikegawa... Journal: Human mutation Issue: Volume 34:Issue 10(2013:Oct.) Page Start: 1381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013) Authors: Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van Bon, Bregje W.M.; van Minderhout, Ivonne J.H.M.; Snowdowne, Ronelle; van der Lans, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der Wielen, Michiel J.R.; Vollebregt, M.J. (E... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013) Authors: Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van, Bregje W.M.; van, Ivonne J.H.M.; Snowdowne, Ronelle; van der, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der, Michiel J.R.; Vollebregt, M.J. (Ellen); Breuning, Martijn H.... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency. Issue 3 (30th July 2021) Authors: Kolukisa, Burcu; Baser, Dilek; Akcam, Bengu; Danielson, Jeffrey; Bilgic Eltan, Sevgi; Haliloglu, Yesim; Sefer, Asena Pinar; Babayeva, Royale; Akgun, Gamze; Charbonnier, Louis‐Marie; Schmitz‐Abe, Klaus; Kendir Demirkol, Yasemin; Zhang, Yu; Gonzaga‐Jauregui, Claudia; Jimenez Heredia, Raul; Kasap, N... Journal: Allergy Issue: Volume 77:Issue 3(2022) Page Start: 1004 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients. Issue 6 (13th April 2016) Authors: Kayserili, Hülya; Altunoglu, Umut; Yesil, Gozde; Rosti, Rasim Özgür Journal: American journal of medical genetics Issue: Volume 170:Issue 6(2016) Page Start: 1391 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Parents of ataxia‐telangiectasia patients display a distinct cellular immune phenotype mimicking ATM‐mutated patients. Issue 2 (19th October 2020) Authors: Ogulur, Ismail; Ertuzun, Tugce; Kocamis, Burcu; Kendir Demirkol, Yasemin; Uyar, Emel; Kiykim, Ayca; Baser, Dilek; Yesil, Gozde; Akturk, Hacer; Somer, Ayper; Ozen, Ahmet; Karakoc‐Aydiner, Elif; Muftuoglu, Meltem; Baris, Safa Editors: Atanaskovic‐Markovic, Marina Journal: Pediatric allergy and immunology Issue: Volume 32:Issue 2(2021) Page Start: 349 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗