Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders

por Vanaja, Maria Celestina, Jain, Jamal Mohammed Nurul, Dalal, Ashwin, Ranganath, Prajnya
Publicado 2023

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients

por Arora, Veronica, Setia, Nitika, Dalal, Ashwin, Vanaja, Maria Celestina, Gupta, Deepti, Razdan, Tinku, Phadke, Shubha R., Saxena, Renu, Rohtagi, Anshu, Verma, Ishwar C., Puri, Ratna Dua
Publicado 2020