1. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Issue 3 (4th January 2023) Authors: Dawood, Moez; Akay, Gulsen; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Gezdirici, Alper; Najmabadi, Hossein; Kahrizi, Kimia; Punetha, Jaya; Grochowski, Christopher M.; Du, Haowei; Jolly, Angad; Li, He; Coban‐Akdemir, Zeynep; Sedlazeck, Fritz J.; Hunter, Jill V.; Jhangiani, Shalini N.; Muzny... Journal: American journal of medical genetics Issue: Volume 191:Issue 3(2023) Page Start: 794 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Huge Fetal Sacrococcygeal Teratoma with a Vascular Disruption Sequence. (1st August 2015) Authors: Atis, Alev; Kaya, Basak; Acar, Deniz; Polat, Ibrahim; Gezdirici, Alper; Gedikbasi, Ali Journal: Fetal and pediatric pathology Issue: Volume 34:Number 4(2015) Page Start: 212 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review. Issue 3 (July 2017) Authors: Duz, Mehmet B.; Kirat, Emre; Coucke, Paul J.; Koparir, Erkan; Gezdirici, Alper; Paepe, Anne De; Callewaert, Bert; Seven, Mehmet Journal: Clinical dysmorphology Issue: Volume 26:Issue 3(2017:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Rare Cause of Syncope: Naxos Disease Caused by Novel Homozygous Deletion in the JUP Gene. (30th September 2021) Authors: Sonsöz, Mehmet Rasih; İli, Ezgi Gökpinar; Gezdirici, Alper; Topel, Cagdas; Kahveci, Gökhan; Bornaun, Helen Journal: Circulation Issue: Volume 14:Number 10(2021) Page Start: e013059 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A Rare Cause of Syncope: Naxos Disease Caused by Novel Homozygous Deletion in the JUP Gene. (October 2021) Authors: Sonsöz, Mehmet Rasih; İli, Ezgi Gökpinar; Gezdirici, Alper; Topel, Cagdas; Kahveci, Gökhan; Bornaun, Helen Journal: Circulation Issue: Volume 14:Number 10(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Issue 1 (24th October 2020) Authors: Dyment, David A.; O'Donnell‐Luria, Anne; Agrawal, Pankaj B.; Coban Akdemir, Zeynep; Aleck, Kyrieckos A.; Antaki, Danny; Al Sharhan, Hind; Au, Ping‐Yee B.; Aydin, Hatip; Beggs, Alan H.; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A.; Buyske, Steve; Chodirker, Bernard; ... Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Arterial tortuosity syndrome: 40 new families and literature review. (October 2018) Authors: Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul; Cousin, Margot; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; ... Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1236 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype. Issue 10 (20th August 2018) Authors: Beyens, Aude; Moreno‐Artero, Ester; Bodemer, Christine; Cox, Helen; Gezdirici, Alper; Yilmaz Gulec, Elif; Kahloul, Najoua; Khau Van Kien, Philippe; Ogur, Gonul; Harroche, Annie; Vasse, Marc; Salhi, Aïcha; Symoens, Sofie; Hadj‐Rabia, Smail; Callewaert, Bert Other Names: Bauer Johann W. guestEditor.; Bodemer Christine guestEditor.; Schmuth Matthias guestEditor. Journal: Experimental dermatology Issue: Volume 28:Issue 10(2019) Page Start: 1142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Back Cover, Volume 43, Issue 7. Issue 7 (8th June 2022) Authors: Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; van Beusekom, Ellen; Cordoba, Mara S.; Caldas Rosa, Erica C.C.; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet... Journal: Human mutation Issue: Volume 43:Issue 7(2022) Page Start: ii Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗