Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
A large-scale candidate gene association study of age at menarche and age at natural menopause.
Human Genetics
He, Chunyan C; Kraft, Peter P; Chasman, Daniel I DI; Buring, Julie E JE; Chen, Constance C; Hankinson, Susan E SE; Paré, Guillaume G; Chanock, Stephen S; Ridker, Paul M PM; Hunter, David J DJ
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
American Journal Of Human Genetics
Hakonen, Anna H AH; Heiskanen, Silja S; Juvonen, Vesa V; Lappalainen, Ilse I; Luoma, Petri T PT; Rantamaki, Maria M; Goethem, Gert Van GV; Lofgren, Ann A; Hackman, Peter P; Paetau, Anders A; Kaakkola, Seppo S; Majamaa, Kari K; Varilo, Teppo T; Udd, Bjarne B; Kaariainen, Helena H; Bindoff, Laurence A LA; Suomalainen, Anu A