Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

Por Bodamer, Olaf, Scarpa, Maurizio, Hung, Christina, Pulles, Tom, Giugliani, Roberto
Publicado no Mol Genet Metab Rep (2017)

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots

Por Johnson, Britt, Mascher, Hermann, Mascher, Daniel, Legnini, Elisa, Hung, Christina Y, Dajnoki, Angela, Chien, Yin-Hsiu, Maródi, László, Hwu, Wuh-Liang, Bodamer, Olaf A
Publicado em 2013

Mutations in RIT1 cause Noonan syndrome – additional functional evidence and expanding the clinical phenotype

Por Koenighofer, Martin, Hung, Christina Y., McCauley, Jacob L., Dallman, Julia, Back, Emma J., Mihalek, Ivana, Gripp, Karen W., Sol-Church, Katia, Rusconi, Paolo, Zhang, Zhaiyi, Shi, Geng-Xian, Andres, Douglas A., Bodamer, Olaf A.
Publicado no Clin Genet (2015)

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Por Tuschl, Karin, Meyer, Esther, Valdivia, Leonardo E., Zhao, Ningning, Dadswell, Chris, Abdul-Sada, Alaa, Hung, Christina Y., Simpson, Michael A., Chong, W. K., Jacques, Thomas S., Woltjer, Randy L., Eaton, Simon, Gregory, Allison, Sanford, Lynn, Kara, Eleanna, Houlden, Henry, Cuno, Stephan M., Prokisch, Holger, Valletta, Lorella, Tiranti, Valeria, Younis, Rasha, Maher, Eamonn R., Spencer, John, Straatman-Iwanowska, Ania, Gissen, Paul, Selim, Laila A. M., Pintos-Morell, Guillem, Coroleu-Lletget, Wifredo, Mohammad, Shekeeb S., Yoganathan, Sangeetha, Dale, Russell C., Thomas, Maya, Rihel, Jason, Bodamer, Olaf A., Enns, Caroline A., Hayflick, Susan J., Clayton, Peter T., Mills, Philippa B., Kurian, Manju A., Wilson, Stephen W.
Publicado no Nat Commun (2016)