Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, French–Canadian Type Outside of Québec

por Han, Velda Xinying, Tan, Teresa S., Wang, Furene S., Tay, Stacey Kiat-Hong
Publicado 2017

A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias

por Siddiqi, Saima, Foo, Jia Nee, Vu, Anthony, Azim, Saad, Silver, David L., Mansoor, Atika, Tay, Stacey Kiat Hong, Abbasi, Sumiya, Hashmi, Asraf Hussain, Janjua, Jamal, Khalid, Sumbal, Tai, E. Shyong, Yeo, Gene W., Khor, Chiea Chuen
Publicado 2014

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

por Utami, Kagistia H., Hillmer, Axel M., Aksoy, Irene, Chew, Elaine G. Y., Teo, Audrey S. M., Zhang, Zhenshui, Lee, Charlie W. H., Chen, Pauline J., Seng, Chan Chee, Ariyaratne, Pramila N., Rouam, Sigrid L., Soo, Lim Seong, Yousoof, Saira, Prokudin, Ivan, Peters, Gregory, Collins, Felicity, Wilson, Meredith, Kakakios, Alyson, Haddad, Georges, Menuet, Arnaud, Perche, Olivier, Tay, Stacey Kiat Hong, Sung, Ken W. K., Ruan, Xiaoan, Ruan, Yijun, Liu, Edison T., Briault, Sylvain, Jamieson, Robyn V., Davila, Sonia, Cacheux, Valere
Publicado 2014