Results 341 to 350 of about 1,041,152 (399)
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders. [PDF]
NPJ Genom MedHan H, Seo GH, Hyun SI, Kwon K, Ryu SW, Khang R, Lee E, Kim J, Song Y, Jeong WC, Han J, Kim DW, Yang S, Lee S, Jang S, Lee J, Lee H. +16 moreeuropepmc +1 more sourceDe novo mutations revealed by whole-exome sequencing are strongly associated with autism
, 2012 Stephan Sanders, Michael T. Murtha, Abha R. Gupta, John D. Murdoch, Melanie J. Raubeson, A. Jeremy Willsey, A. Gulhan Ercan‐Sencicek, Nicholas M. DiLullo, Neelroop Parikshak, Jason L. Stein, Michael F. Walker, G Ober, Nicole A. Teran, Youeun Song, Paul El-Fishawy, Ryan Murtha, Murim Choi, John D. Overton, Robert Bjornson, Nicholas Carriero, Kyle A. Meyer, Kaya Bilgüvar, Shrikant Mane, Nenad Šestan, Richard P. Lifton, Murat Günel, Kathryn Roeder, Daniel H. Geschwind, Bernie Devlin, Matthew W. State +29 moreopenalex +2 more sourcesInput of exome sequencing in early-onset cerebral amyloid angiopathy. [PDF]
Alzheimers Dement (Amst)Grangeon L, Charbonnier C, Rousseau S, Richard AC, Quenez O, Zarea A, Boland A, Olaso R, Deleuze JF, CAA study group, Tournier-Lasserve E, Nicolas G, Wallon D. +12 moreeuropepmc +1 more sourceExome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families. [PDF]
Sci RepBüyükgöl F, Gürdamar B, Aluçlu MU, Beckmann Y, Bilguvar K, Boz C, Bülbül A, Bünül SD, Çetin Ö, Demir CF, Demir S, Duman T, Efendi H, Ekmekçi Ö, Ertetik U, Ethemoğlu Ö, Everest E, Gümüş H, Gündüz T, Karabudak R, Karaman B, Kürtüncü M, Mutluer M, Reda MD, Saip S, Seferoğlu M, Sever E, Sezerman OU, Şen S, Taşdelen B, Tecellioğlu M, Terzi M, Tuncer A, Turan ÖF, Tütüncü M, Uncu G, Uygunoğlu U, Uzunköprü C, Voyvoda U, Yetkin MF, Yüceyar N, Siva A, Turanlı ET. +42 moreeuropepmc +1 more sourceMassively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models
, 2012 T. Daniel Andrews, B Whittle, Matthew A. Field, Bhavani Balakishnan, Yuxi Zhang, Yi-Hong Shao, V. Cho, Martyn Kirk, Mandeep Singh, Yu Xia, Jörg Hager, S. Winslade, G. Sjollema, Bruce Beutler, Anselm Enders, Christopher C. Goodnow +15 moreopenalex +1 more sourceCopy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort. [PDF]
NPJ Genom MedHahn E, Dharmadhikari AV, Markowitz AL, Estrine D, Quindipan C, Maggo SDS, Sharma A, Lee B, Maglinte DT, Shams S, Deardorff MA, Biegel JA, Gai X, Sun M, Schmidt RJ, Raca G, Ji J. +16 moreeuropepmc +1 more source
