Resolving the Diagnostic Odyssey of a Patient with an Undefined Neuromuscular Disorder Using Massively Parallel Sequencing Approaches

• المؤلفون الرئيسيون: Yu, Yiliu, Ong, Hui Juan, SWATI TOMAR, TAN LI XUAN, GRACE (CHEN LIXUAN), RAMAN SETHI, TAY KIAT HONG,STACEY, LAI POH SAN
• مؤلفون آخرون: PAEDIATRICS
• التنسيق: فصل الكتاب
• منشور في: Springer 2020
• الموضوعات: Next generation sequencing; Targeted sequencing; whole exome sequencing; Whole genome sequencing; Neuromuscular disorder
• الوصول للمادة أونلاين: https://scholarbank.nus.edu.sg/handle/10635/183391

IRC-SET 2018 Proceedings of the 4th IRC Conference on Science, Engineering and Technology