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

by Velda Xinying Han MBBS, MMED, MRCPCH, Teresa S. Tan MBBS, MMED, MRCPCH, Furene S. Wang MBBS, MMED, MRCPCH, Stacey Kiat-Hong Tay MBBS, MMED, MRCP, FRCPCH
Published 2017-11-01

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.

by Saima Siddiqi, Jia Nee Foo, Anthony Vu, Saad Azim, David L Silver, Atika Mansoor, Stacey Kiat Hong Tay, Sumiya Abbasi, Asraf Hussain Hashmi, Jamal Janjua, Sumbal Khalid, E Shyong Tai, Gene W Yeo, Chiea Chuen Khor
Published 2014-01-01

Detection of chromosomal breakpoints in patients with developmental delay and speech disorders.

by Kagistia H Utami, Axel M Hillmer, Irene Aksoy, Elaine G Y Chew, Audrey S M Teo, Zhenshui Zhang, Charlie W H Lee, Pauline J Chen, Chan Chee Seng, Pramila N Ariyaratne, Sigrid L Rouam, Lim Seong Soo, Saira Yousoof, Ivan Prokudin, Gregory Peters, Felicity Collins, Meredith Wilson, Alyson Kakakios, Georges Haddad, Arnaud Menuet, Olivier Perche, Stacey Kiat Hong Tay, Ken W K Sung, Xiaoan Ruan, Yijun Ruan, Edison T Liu, Sylvain Briault, Robyn V Jamieson, Sonia Davila, Valere Cacheux
Published 2014-01-01