Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies

per Di Gioia, Silvio Alessandro, Shaaban, Sherin, Tüysüz, Beyhan, Elcioglu, Nursel H., Chan, Wai-Man, Robson, Caroline D., Ecklund, Kirsten, Gilette, Nicole M., Hamzaoglu, Azmi, Tayfun, Gulsen Akay, Traboulsi, Elias I., Engle, Elizabeth C.
Publicat a Am J Hum Genet (2018)

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

per Bayram, Yavuz, Karaca, Ender, Coban Akdemir, Zeynep, Yilmaz, Elif Ozdamar, Tayfun, Gulsen Akay, Aydin, Hatip, Torun, Deniz, Bozdogan, Sevcan Tug, Gezdirici, Alper, Isikay, Sedat, Atik, 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 Ozalp, Yildirim, Timur, Bayhan, Ilhan A., Boerwinkle, Eric, Gibbs, Richard A., Elcioglu, Nursel, Tuysuz, Beyhan, Lupski, James R.
Publicat a J Clin Invest (2016)