1. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Issue 4 (13th February 2018) Authors: Dinckan, Nuriye; Du, Renqian; Akdemir, Zeynep C.; Bayram, Yavuz; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Guven, Yeliz; Aktoren, Oya; Kayserili, Hulya; Boerwinkle, Eric; Gibbs, Richard A.; Posey, Jennifer E.; Lupski, James R.; Uyguner, Zehra O.; Letra, Ariadne Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 1015 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey. Issue 3 (12th July 2022) Authors: Yilmaz Gulec, Elif; Turgut, Gozde Tutku; Gezdirici, Alper; Karaman, Volkan; Ozturk, Fatma Nihal; Avci, Sahin; Kalayci, Tugba; Senturk, Leyli; Ayaz, Akif; Kayserili, Hulya; Uyguner, Zehra Oya; Altunoğlu, Umut Journal: Clinical genetics Issue: Volume 102:Issue 3(2022) Page Start: 201 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. Issue 12 (14th November 2017) Authors: Lehalle, Daphné; Altunoglu, Umut; Bruel, Ange‐Line; Arnaud, Eric; Blanchet, Patricia; Choi, Jong‐Woo; Désir, Julie; Kiliç, Esra; Lederer, Damien; Pinson, Lucile; Thauvin‐Robinet, Christel; Singer, Amihood; Thevenon, Julien; Callier, Patrick; Kayserili, Hulya; Faivre, Laurence Journal: American journal of medical genetics Issue: Volume 173:Issue 12(2017) Page Start: 3136 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. Issue 6 (27th March 2014) Authors: Kantaputra, Piranit Nik; Kayserili, Hulya; Guven, Yeliz; Kantaputra, Warissara; Balci, Mehmet C.; Tanpaiboon, Pranoot; Tananuvat, Napaporn; Uttarilli, Anusha; Dalal, Ashwin Journal: American journal of medical genetics Issue: Volume 164:Issue 6(2014.) Page Start: 1443 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. Issue 5 (14th February 2017) Authors: Mendes, Marisa I; Smith, Desirée EC; Pop, Ana; Lennertz, Pascal; Fernandez Ojeda, Matilde R; Kanhai, Warsha A; van Dooren, Silvy JM; Anikster, Yair; Barić, Ivo; Boelen, Caroline; Campistol, Jaime; de Boer, Lonneke; Kariminejad, Ariana; Kayserili, Hulya; Roubertie, Agathe; Verbruggen, Krijn T; Via... Journal: Human mutation Issue: Volume 38:Issue 5(2017) Page Start: 524 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Enamel–Renal–Gingival syndrome, hypodontia, and a novel FAM20A mutation. Issue 8 (22nd April 2014) Authors: Kantaputra, Piranit Nik; Bongkochwilawan, Chotika; Kaewgahya, Massupa; Ohazama, Atsushi; Kayserili, Hulya; Erdem, Arzu Pinar; Aktoren, Oya; Guven, Yeliz Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 2124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. Issue 5 (1st March 2013) Authors: Schmidts, Miriam; Arts, Heleen H; Bongers, Ernie M H F; Yap, Zhimin; Oud, Machteld M; Antony, Dinu; Duijkers, Lonneke; Emes, Richard D; Stalker, Jim; Yntema, Jan-Bart L; Plagnol, Vincent; Hoischen, Alexander; Gilissen, Christian; Forsythe, Elisabeth; Lausch, Ekkehart; Veltman, Joris A; Roeleveld,... Other Names: contributor. Journal: Journal of medical genetics Issue: Volume 50:Issue 5(2013) Page Start: 309 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia. (November 2018) Authors: Michot, Caroline; Goff, Carine; Blair, Edward; Blanchet, Patricia; Capri, Yline; Gilbert-Dussardier, Brigitte; Goldenberg, Alice; Henderson, Alex; Isidor, Bertrand; Kayserili, Hulya; Kinning, Esther; Merrer, Martine; Lyonnet, Stanislas; Odent, Sylvie; Simsek-Kiper, Pelin; Quelin, Chloé; Savariray... Journal: European journal of human genetics Issue: Volume 26:Number 11(2018) Page Start: 1611 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype. Issue 4 (31st January 2022) Authors: Turgut, Gozde Tutku; Altunoglu, Umut; Sivrikoz, Tugba Sarac; Toksoy, Guven; Kalaycı, Tuğba; Avcı, Şahin; Karaman, Birsen; Gulec, Cagri; Başaran, Seher; Sayın, Gözde Yeşil; Kayserili, Hulya; Uyguner, Zehra Oya Journal: Clinical genetics Issue: Volume 101:Issue 4(2022) Page Start: 421 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗