Not logged in Share Save
Phenotypic expansion illuminates multilocus pathogenic variation Karaca, Ender; Posey, Jennifer E.; Akdemir, Zeynep Coban; Pehlivan, Davut; Harel, Tamar; Jhangiani, Shalini N.; Bayram, Yavuz; Song, Xiaofei; Bahrambeigi, Vahid; Yuregir, Ozge Ozalp; Bozdogan, Sevcan; Yesil, Gozde; Isikay, Sedat; Muzny, Donna; Gibbs, Richard A.; Lupski, James R. Share Save
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis Fenwick, Aimee L.; Kliszczak, Maciej; Cooper, Fay; Murray, Jennie; Sanchez-Pulido, Luis; Twigg, Stephen R. F.; Goriely, Anne; McGowan, Simon J.; Miller, Kerry A.; Taylor, Indira B.; Logan, Clare; Bozdogan, Sevcan; Danda, Sumita; Dixon, Joanne; Elsayed, Solaf M.; Elsobky, Ezzat; Gardham, Alice; Hoffer, Mariette J. V.; Koopmans, Marije; McDonald-McGinn, Donna M.; Santen, Gijs W. E.; Savarirayan, Ravi; de Silva, Deepthi; Vanakker, Olivier; Wall, Steven A.; Wilson, Louise C.; Yuregir, Ozge Ozalp; Zackai, Elaine H.; Ponting, Chris P.; Jackson, Andrew P.; Wilkie, Andrew O. M.; Niedzwiedz, Wojciech; Bicknell, Louise S. Share Save
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin Bayram, Yavuz; Karaca, Ender; Akdemir, Zeynep Coban; Yilmaz, Elif Ozdamar; Tayfun, Gulsen Akay; Aydin, Hatip; Torun, Deniz; Bozdogan, Sevcan Tug; Gezdirici, Alper; Isikay, Sedat; Atilt, Mehmed M.; Gambin, Tomasz; Harel, Tamar; El-Hattab, Ayman W.; Charng, Wu-Lin; Pehlivan, Davut; Jhangiani, Shalini N.; Muzny, Donna M.; Karaman, Ali; Celik, Tamer; Yuregir, Ozge Ozaip; Yildirim, Timur; Bayhan, Ilhan A.; Boerwinkle, Eric; Gibbs, Richard A.; Elcioglu, Nurse; Tuysuz, Beyhan; Lupski, James R. Share Save
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease Karaca, Ender; Harel, Tamar; Pehlivan, Davut; Jhangiani, Shalini N.; Gambin, Tomasz; Akdemir, Zeynep Coban; Gonzaga-Jauregui, Claudia; Erdin, Serkan; Bayram, Yavuz; Campbell, Ian M.; Hunter, Jill V.; Atik, Mehmed M.; Van Esch, Hilde; Yuan, Bo; Wiszniewski, Wojciech; Isikay, Sedat; Yesil, Gozde; Yuregir, Ozge O.; Bozdogan, Sevcan Tug; Aslan, Huseyin; Aydin, Hatip; Tos, Tulay; Aksoy, Ayse; De Vivo, Darryl C.; Jain, Preti; Geckinli, B. Bilge; Sezer, Ozlem; Gul, Davut; Durmaz, Burak; Cogulu, Ozgur; Ozkinay, Ferda; Topcu, Vehap; Candan, Sukru; Cebi, Alper Han; Ikbal, Mevlit; Gulec, Elif Yilmaz; Gezdirici, Alper; Koparir, Erkan; Ekici, Fatma; Coskun, Salih; Cicek, Salih; Karaer, Kadri; Koparir, Asuman; Duz, Mehmet Bugrahan; Kirat, Emre; Fenercioglu, Elif; Ulucan, Hakan; Seven, Mehmet; Guran, Tulay; Elcioglu, Nursel; Yildirim, Mahmut Selman; Aktas, Dilek; Alikasifoglu, Mehmet; Ture, Mehmet; Yakut, Tahsin; Overton, John D.; Yuksel, Adnan; Ozen, Mustafa; Muzny, Donna M.; Adams, David R.; Boerwinkle, Eric; Chung, Wendy K.; Gibbs, Richard A.; Lupski, James R. Share Save
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes Yuan, Bo; Pehlivan, Davut; Karaca, Ender; Patel, Nisha; Charng, Wu-Lin; Gambin, Tomasz; Gonzaga-Jauregui, Claudia; Sutton, V. Reid; Yesil, Gozde; Bozdogan, Sevcan Tug; Tos, Tulay; Koparir, Asuman; Koparir, Erkan; Beck, Christine R.; Gu, Shen; Aslan, Huseyin; Yuregir, Ozge Ozalp; Al Rubeaan, Ha Lid; Alnaqeb, Dhekra; Alshammari, Muneera J.; Bayram, Yavuz; Atik, Mehmed M.; Aydin, Hatip; Geckinli, B. Bilge; Seven, Mehmet; Ulucan, Hakan; Fenercioglu, Elif; Ozen, Mustafa; Jhangiani, Shalini; Muzny, Donna M.; Boerwinkle, Eric; Tuysuz, Beyhan; Alkuraya, Fowzan S.; Gibbs, Richard A.; Lupski, James R. Share Save
Share Save
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
