Rekha Gupta

Hotspots in PTPN11 gene among Indian children with Noonan syndrome

A. Moirangthem, S. Phadke, Himani Pandey, 2017, Indian Pediatrics.

Sanger sequencing of all the 15 Hotspots in PTPN 11 Gene Among Indian Children With Noonan Syndrome

A. Moirangthem, Himani Pandey, K. Mandal, 2017 .

Association of CTLA-4 and TNF-α polymorphism with recurrent miscarriage among North Indian women.

S. Prakash, S. Agrawal, F. Parveen, 2012, Cytokine.

Multiplex quantitative fluorescent polymerase chain reaction for detection of aneuploidies.

S. Phadke, Shalu Jain, I. Panigrahi, 2012, Genetic testing and molecular biomarkers.

Smith-Magenis Syndrome: Face Speaks

M. Kabra, S. Phadke, K. Mandal, 2016, Indian Journal of Pediatrics.

Hemiconvulsion–hemiplegia–epilepsy syndrome with 1q44 microdeletion: Causal or chance association

S. Phadke, R. Phadke, Rekha Gupta, 2014, American journal of medical genetics. Part A.

Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India

M. Bashyam, K. Girisha, A. Dalal, 2021, American journal of medical genetics. Part A.