L. P. San

A novel transthyretin mutation V32A in a Chinese man with late‐onset amyloid polyneuropathy

E. Pica, Z. Pramono, K. Verma, 2005, Muscle & nerve.

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

S. Tomar, R. Sethi, L. P. San, 2019, IRC-SET 2018.

NRG1 variant effects in patients with Hirschsprung disease

Gunadi, I. Adrianto, R. Sethi, 2018, BMC Pediatrics.

Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines

Gunadi, N. Sasaki, Y. Takeshima, 2012, Brain and Development.

Glucose-6-phosphate dehydrogenase deficiency: molecular heterogeneity in southeast Asian countries.

M. Matsuo, C. Padilla, N. Yusoff, 2003, The Southeast Asian journal of tropical medicine and public health.