Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1

Por Guo, Yiran, Kartawinata, Melissa, Li, Jiankang, Pickett, Hilda A., Teo, Juliana, Kilo, Tatjana, Barbaro, Pasquale M., Keating, Brendan, Chen, Yulan, Tian, Lifeng, Al-Odaib, Ahmad, Reddel, Roger R., Christodoulou, John, Xu, Xun, Hakonarson, Hakon, Bryan, Tracy M.
Publicado em 2014

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Por Foley, A. Reghan, Menezes, Manoj P., Pandraud, Amelie, Gonzalez, Michael A., Al-Odaib, Ahmad, Abrams, Alexander J., Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y., Burns, Joshua, Hughes, Imelda, McCullagh, B. Gary, Jungbluth, Heinz, Lim, Ming J., Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J. Andoni, Shah, Ayaz H., Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A., O’Byrne, James J., Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O’Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M., Wang, Min X., Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O., Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L., Scherer, Steven S., Baxter, Peter S., King, Mary D., Clayton, Peter, Rahman, Shamima, Reilly, Mary M., Ouvrier, Robert A., Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, Houlden, Henry
Publicado em 2014