학술논문
Clinical, genetic and molecular delineation of KPTNrelated disorder in humans and mice identifies mTOR inhibition as a candidate therapeutic approach
Document Type
Journal
Author
Rawlins, Lettie; Levitin, Maria; Iffland, Philip; Gabriela, Sanchez-Andrade; Tonks, James; Fasham, James; Collins, Stephan; Leslie, Joseph; Sawiak, Stephen; Van Ravenswaaij-Arts, Conny; Bupp, Caleb; Kant, Sarina; Wenger, Olivia; Scott, Ethan; Stewart, Helen; Nibbeling, Esther; Schwaibold, Eva; Shuen, Andrew; Seeley, Andrea; Rudnik, Sabine; Al-Kindi, Adila; Hahn, Andreas; Al-Maawali, Almundher; Biskup, Saskia; Mero, Inger-Lise; Heier, Martin; Herkert, Johanna; Terkelsen, Thorkild; Haack, Tobias; Anyane-Yeboa, Kwame; Rocha, Heather; Jory, Logan; Ellis, Ian; Wright, Michael; Vasudevan, Pradeep; Schreiber, John; Harlalka, Gaurav; Lelliott, Christopher; Yalcin, Binnaz; Hurles, Matthew; Logan, Darren; Crino, Peter; Gerety, Sebastian; Crosby, Andrew; Baple, Emma
Source
Subject
Language
English
ISSN
14765438