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

Por 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.
Publicado no Am J Hum Genet (2018)

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Por 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.
Publicado no J Clin Invest (2016)