未登录Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Hochberg, Irit; Demain, Leigh A. M.; Richer, Julie; Thompson, Kyle; Urquhart, Jill E.; Rea, Alessandro; Pagarkar, Waheeda; Rodriguez-Palmero, Agusti; Schluter, Agatha; Verdura, Edgard; Pujol, Aurora; Quijada-Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J.; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A.; McMillan, Hugh J.; Barzik, Melanie; Beaman, Glenda M.; Motha, Reeya; Ng, Kah Ying; O'Sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Lawrence, Isabella R.; Jenkinson, Emma M.; Zambonin, Jessica L.; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Yue, Wyatt W.; Zschocke, Johannes; Munro, Kevin J.; Battersby, Brendan J.; Friedman, Thomas B.; Taylor, Robert W.; O'Keefe, Raymond T.; Newman, William G. .png)
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收藏分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Failure to conceive in women with CF is associated with pancreatic insufficiency and advancing ageShteinberg, Michal; Ben Lulu, Adi; Downey, Damian G.; Blumenfeld, Zeev; Rousset-Jablonski, Christine; Perceval, Marie; Colombo, Alessandra; Stein, Nili; Livnat, Galit; Gur, Michal; Bentur, Lea; Mussaffi, Huda; Blau, Hannah; Sarouk, Ifat; Dagan, Adi; Kerem, Eitan; Aviram, Micha; Picard, Elie; Aliberti, Stefano; Alvarez, Antonio; Perez Miranda, Javier; Polverino, Eva; Durieu, Isabelle; Elborn, J. Stuart; Cohen-Cymberknoh, Malena 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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