1. A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome. (22nd April 2022) Authors: Yadav, Navneesh; Kirola, Laxmi; Geetha, Thenral S; Mittal, Kirti; Kadandale, Jayarama; Yogev, Yuval; Birk, Ohad S.; Gupta, Neerja; Balakrishnan, Prahlad; Jana, Manisha; Gupta, Meena; Kabra, Madhulika; Thelma, Bittianda Kuttapa Journal: Annals of human genetics Issue: Volume 86:Number 5(2022) Page Start: 245 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India. Issue 2 (27th April 2022) Authors: Varshney, Kruti; Narayanachar, Sanjeeva Ghanti; Girisha, Katta M; Bhavani, Gandham SriLakshmi; Narayanan, Dhanyalakshmi; Phadke, Shubha; Nampoothiri, Sheela; Udupi, Gautham Arunachal; Raghupathy, Palany; Nair, Mohandas; Geetha, Thenral S; Bhat, Meenakshi Journal: Journal of medical genetics Issue: Volume 60:Issue 2(2023) Page Start: 204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗