Genomic imbalances are confined to non-proliferating cells in paediatric patients with acute myeloid leukaemia and a normal or incomplete karyotype. by Erica Ballabio, Regina Regan, Elisa Garimberti, Jochen Harbott, Jutta Bradtke, Andrea Teigler-Schlegel, Andrea Biondi, Giovanni Cazzaniga, Giovanni Giudici, James S Wainscoat, Jacqueline Boultwood, Joanna M Bridger, Samantha J L Knight, Sabrina Tosi

Get full text

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. by Stefano Lise, Yvonne Clarkson, Emma Perkins, Alexandra Kwasniewska, Elham Sadighi Akha, Ricardo Parolin Schnekenberg, Daumante Suminaite, Jilly Hope, Ian Baker, Lorna Gregory, Angie Green, Chris Allan, Sarah Lamble, Sandeep Jayawant, Gerardine Quaghebeur, M Zameel Cader, Sarah Hughes, Richard J E Armstrong, Alexander Kanapin, Andrew Rimmer, Gerton Lunter, Iain Mathieson, Jean-Baptiste Cazier, David Buck, Jenny C Taylor, David Bentley, Gilean McVean, Peter Donnelly, Samantha J L Knight, Mandy Jackson, Jiannis Ragoussis, Andrea H Németh

Get full text

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans by Akiko Soneda Hashimoto, Jianshi Yu, Christina Williams, Karin Gaudenz, Parisa Varshosaz, Ruonan Zhao, Nageswara Pilli, Tian Liu, Jonathon Russell, Rebecca S. Tooze, Stephen R.F. Twigg, Siddharth Banka, Elizabeth Sweeney, Simon J. McGowan, Samantha J.L. Knight, Jenny C. Taylor, Tawfiq Jamal Froukh, M. Irene Valenzuela Palafoll, Núria Martínez-Gil, Mar Costa-Roger, Maria Teresa Villarreal-Molina, Esther Lieberman Hernandez, Rami Abou Jamra, Felix Gattermann, Margarete Koch-Hogrebe, Dagmar Wieczorek, Paul A. Trainor, Alexander R. Moise, Andrew O.M. Wilkie, Maureen A. Kane

Get full text