Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

por Baple, Emma L., Maroofian, Reza, Chioza, Barry A., Izadi, Maryam, Cross, Harold E., Al-Turki, Saeed, Barwick, Katy, Skrzypiec, Anna, Pawlak, Robert, Wagner, Karin, Coblentz, Roselyn, Zainy, Tala, Patton, Michael A., Mansour, Sahar, Rich, Phillip, Qualmann, Britta, Hurles, Matt E., Kessels, Michael M., Crosby, Andrew H.
Publicado 2014

Whole-genome sequencing reveals host factors underlying critical COVID-19

por Kousathanas, Athanasios, Pairo-Castineira, Erola, Rawlik, Konrad, Stuckey, Alex, Odhams, Christopher A., Walker, Susan, Russell, Clark D., Malinauskas, Tomas, Wu, Yang, Millar, Jonathan, Shen, Xia, Elliott, Katherine S., Griffiths, Fiona, Oosthuyzen, Wilna, Morrice, Kirstie, Keating, Sean, Wang, Bo, Rhodes, Daniel, Klaric, Lucija, Zechner, Marie, Parkinson, Nick, Siddiq, Afshan, Goddard, Peter, Donovan, Sally, Maslove, David, Nichol, Alistair, Semple, Malcolm G., Zainy, Tala, Maleady-Crowe, Fiona, Todd, Linda, Salehi, Shahla, Knight, Julian, Elgar, Greg, Chan, Georgia, Arumugam, Prabhu, Patch, Christine, Rendon, Augusto, Bentley, David, Kingsley, Clare, Kosmicki, Jack A., Horowitz, Julie E., Baras, Aris, Abecasis, Goncalo R., Ferreira, Manuel A. R., Justice, Anne, Mirshahi, Tooraj, Oetjens, Matthew, Rader, Daniel J., Ritchie, Marylyn D., Verma, Anurag, Fowler, Tom A., Shankar-Hari, Manu, Summers, Charlotte, Hinds, Charles, Horby, Peter, Ling, Lowell, McAuley, Danny, Montgomery, Hugh, Openshaw, Peter J. M., Elliott, Paul, Walsh, Timothy, Tenesa, Albert, Fawkes, Angie, Murphy, Lee, Rowan, Kathy, Ponting, Chris P., Vitart, Veronique, Wilson, James F., Yang, Jian, Bretherick, Andrew D., Scott, Richard H., Hendry, Sara Clohisey, Moutsianas, Loukas, Law, Andy, Caulfield, Mark J., Baillie, J. Kenneth
Publicado 2022