Shivani Mishra

NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature.

A. Shukla, P. Majethia, Lakshmi Priya Rao, 2021, European journal of medical genetics.

A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability.

S. Phadke, P. Srivastava, Archana Rai, 2020, European journal of medical genetics.