Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers

por Ye, Xin Cynthia, Ng, Isaiah, Seid-Karbasi, Puya, Imam, Tuhina, Lee, Cheryl E, Chen, Shirley Yu, Herman, Adam, Sharma, Balraj, Johal, Gurinder, Gu, Bobby, Wasserman, Wyeth W
Publicado 2013

Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region

por Ye, Xin (Cynthia), Roslin, Nicole M, Paterson, Andrew D, Lyons, Christopher J, Pegado, Victor, Richmond, Phillip, Shyr, Casper, Fornes, Oriol, Han, XiaoHua, Higginson, Michelle, Ross, Colin J, Giaschi, Deborah, Gregory-Evans, Cheryl, Patel, Millan S, Wasserman, Wyeth W
Publicado 2022

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

por Zaharieva, Irina T., Thor, Michael G., Oates, Emily C., van Karnebeek, Clara, Hendson, Glenda, Blom, Eveline, Witting, Nanna, Rasmussen, Magnhild, Gabbett, Michael T., Ravenscroft, Gianina, Sframeli, Maria, Suetterlin, Karen, Sarkozy, Anna, D’Argenzio, Luigi, Hartley, Louise, Matthews, Emma, Pitt, Matthew, Vissing, John, Ballegaard, Martin, Krarup, Christian, Slørdahl, Andreas, Halvorsen, Hanne, Ye, Xin Cynthia, Zhang, Lin-Hua, Løkken, Nicoline, Werlauff, Ulla, Abdelsayed, Mena, Davis, Mark R., Feng, Lucy, Phadke, Rahul, Sewry, Caroline A., Morgan, Jennifer E., Laing, Nigel G., Vallance, Hilary, Ruben, Peter, Hanna, Michael G., Lewis, Suzanne, Kamsteeg, Erik-Jan, Männikkö, Roope, Muntoni, Francesco
Publicado 2016