Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders

por Kumar, Tejashwini Vittal, Bhat, Meenakshi, Narayanachar, Sanjeeva Ghanti, Narayan, Vinu, Srikanth, Ambika K., Anikar, Swathi, Shetty, Swathi
Publicado 2022

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

por Athota, Jeevana Praharsha, Bhat, Meenakshi, Nampoothiri, Sheela, Gowrishankar, Kalpana, Narayanachar, Sanjeeva Ghanti, Puttamallesh, Vinuth, Farooque, Mohammed Oomer, Shetty, Swathi
Publicado 2020