1. A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options. Issue 1 (29th September 2022) Authors: Sharma, Nandita; Kumari, Divya; Panigrahi, Inusha; Khetarpal, Preeti Journal: Clinical genetics Issue: Volume 103:Issue 1(2023) Page Start: 16 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. Chung–Jansen Syndrome with obesity. Issue 3 (May 2021) Authors: Kaur, Harleen; Panigrahi, Inusha Journal: Obesity research & clinical practice Issue: Volume 15:Issue 3(2021) Page Start: 303 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. COFS type 3 in an Indian family with antenatally detected arthrogryposis. Issue 2 (21st November 2020) Authors: Panigrahi, Inusha; Shankar Prasad, Bangalore Anantharamu; Kaur, Harleen; Kalra, Jasvinder Journal: American journal of medical genetics Issue: Volume 185:Issue 2(2021) Page Start: 631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Congenital Cytomegalovirus Infection Masquerading as Antenatal Ventriculomegaly With Intraventricular Hemorrhage in a Term Neonate. (January 2020) Authors: Bhattacharya, Deepanjan; Anil Kumar, B. N.; Panigrahi, Inusha; Kaur, Anupriya Journal: Neurohospitalist Issue: Volume 10:Number 1(2020) Page Start: 55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes. Issue 6 (13th March 2017) Authors: Bruel, Ange-Line; Franco, Brunella; Duffourd, Yannis; Thevenon, Julien; Jego, Laurence; Lopez, Estelle; Deleuze, Jean-François; Doummar, Diane; Giles, Rachel H; Johnson, Colin A; Huynen, Martijn A; Chevrier, Véronique; Burglen, Lydie; Morleo, Manuela; Desguerres, Isabelle; Pierquin, Geneviève; Do... Journal: Journal of medical genetics Issue: Volume 54:Issue 6(2017) Page Start: 371 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Hepatomegaly with neutropenia: a girl with glycogen storage disease Ib. Issue 7 (18th July 2019) Authors: Bhattacharya, Deepanjan; Kumar BN, Anil; Panigrahi, Inusha; Kaur, Anupriya Journal: BMJ case reports Issue: Volume 12:Issue 7(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Hunter syndrome with persistent thrombocytopenia. Issue 4 (20th April 2019) Authors: Panigrahi, Inusha; Dhanorkar, Manoj; Didel, Siyaram; Koganti, Raja Ashok Journal: BMJ case reports Issue: Volume 12:Issue 4(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1. (July 2022) Authors: Paria, Pradip; Saini, Arushi Gahlot; Attri, Savita; Kaur, Rajdeep; Malhi, Prahbhjot; Didwal, Gunjan; Kasinathan, Ananthanarayanan; Bhatia, Prateek; Sahu, Jitendra Kumar; Suthar, Renu; Saini, Lokesh; Vyas, Sameer; Panigrahi, Inusha; Sankhyan, Naveen Journal: European journal of paediatric neurology Issue: Volume 39(2022) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗