1. Ayme gripp syndrome in an Indian patient. Issue 4 (1st January 2021) Authors: Chaudhry, Chakshu; Kaur, Parminder; Srivastava, Priyanka; Kaur, Anupriya Journal: American journal of medical genetics Issue: Volume 185:Issue 4(2021) Page Start: 1312 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis. Issue 1 (28th January 2021) Authors: Kaur, Parminder; Chaudhry, Chakshu; Neelam, Harsha; Panigrahi, Inusha Journal: BMJ case reports Issue: Volume 14:Issue 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical profile of symptomatic congenital cytomegalovirus infection: cases from a tertiary hospital in north India. (July 2020) Authors: Bhattacharya, Deepanjan; Panigrahi, Inusha; Chaudhry, Chakshu Journal: Tropical doctor Issue: Volume 50:Number 3(2020) Page Start: 282 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene. Issue 1 (18th January 2023) Authors: Snehi, Sagarika; Kaur, Anupriya; Chaudhry, Chakshu; Kaushik, Sushmita Journal: BMJ case reports Issue: Volume 16:Issue 1(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Fluctuating weakness: clue in the eyes!. Issue 12 (28th December 2020) Authors: Kaur, Amrit; Chaudhry, Chakshu; Mehta, Aditi; Kaur, Anupriya Journal: BMJ case reports Issue: Volume 13:Issue 12(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Indian child with novel variant in OFD1 gene. Issue 10 (17th July 2020) Authors: Panigrahi, Inusha; Ahuja, Chirag; Chaudhry, Chakshu Journal: American journal of medical genetics Issue: Volume 182:Issue 10(2020) Page Start: 2236 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India. (23rd March 2021) Authors: Chaudhry, Chakshu; Kaur, Parminder; Srivastava, Priyanka; Panigrahi, Inusha; Kaur, Anupriya Journal: Congenital anomalies Issue: Volume 61:Number 4(2021) Page Start: 140 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians. (3rd November 2021) Authors: Kaur, Parminder; Panigrahi, Inusha; Kaur, Harleen; Singh, Thakurvir; Chaudhry, Chakshu Other Names: Mittal Balraj Academic Editor. Journal: Case reports in genetics Issue: Volume 2021(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Sotos syndrome in two children from India. Issue 9 (17th July 2020) Authors: Panigrahi, Inusha; Chaudhry, Chakshu Journal: American journal of medical genetics Issue: Volume 182:Issue 9(2020) Page Start: 2181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Wolf–Hirschhorn syndrome: A case series from India. Issue 12 (10th September 2020) Authors: Chaudhry, Chakshu; Kaur, Anit; Panigrahi, Inusha; Kaur, Anupriya Journal: American journal of medical genetics Issue: Volume 182:Issue 12(2020) Page Start: 3048 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗