1. Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. (November 2018) Authors: Srivastava, Anshika; Srivastava, Kinshuk; Hebbar, Malavika; Galada, Chelna; Kadavigrere, Rajagopal; Su, Fengyun; Cao, Xuhong; Chinnaiyan, Arul; Girisha, Katta; Shukla, Anju; Bielas, Stephanie Journal: European journal of human genetics Issue: Volume 26:Number 11(2018) Page Start: 1582 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. Issue 1 (January 2018) Authors: Shukla, Anju; Das Bhowmik, Aneek; Hebbar, Malavika; Rajagopal, Kadavigere; Girisha, Katta; Gupta, Neerja; Dalal, Ashwin Journal: Journal of human genetics Issue: Volume 63:Issue 1(2018) Page Start: 19 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. Issue 1 (December 2016) Authors: Girisha, Katta; Bidchol, Abdul; Graul-Neumann, Luitgard; Gupta, Ashish; Hehr, Ute; Lessel, Davor; Nader, Sean; Shah, Hitesh; Wickert, Julia; Kutsche, Kerstin Journal: BMC medical genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗