1. Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3. Issue 12 (8th October 2022) Authors: Simsek‐Kiper, Pelin Ozlem; Jacob, Prince; Upadhyai, Priyanka; Taşkıran, Zihni Ekim; Guleria, Vishal S.; Karaosmanoglu, Beren; Imren, Gozde; Gocmen, Rahsan; Bhavani, Gandham S.; Kausthubham, Neethukrishna; Shah, Hitesh; Utine, Gulen Eda; Boduroglu, Koray; Girisha, Katta M. Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 2116 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families. Issue 3 (July 2020) Authors: Radhakrishnan, Periyasamy; Jacob, Prince; Nayak, Shalini S.; Gowrishankar, Kalpana; Prakash Soni, Jai; Shukla, Anju; Girisha, Katta M. Journal: Clinical dysmorphology Issue: Volume 29:Issue 3(2020:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Efficacy of Internet-Based Dietary Behavior Change Interventions in Improving Healthy Eating Across the Life Course: A Systematic Review. (14th June 2022) Authors: Payin, Evelyn; Jacob, Prince Journal: Current developments in nutrition Issue: Volume 6(2022)Supplement 1 Page Start: 596 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. FRI0578 LACC1 MUTATION IN THREE SIBLINGS WITH POLYARTHRITIS WITHOUT SYSTEMIC MANIFESTATIONS. (June 2019) Authors: Singh, Ankita; Suri, Deepti; Jacob, Prince; Girisha, Katta Mohan; Jindal, Ankur; Singh, Surjit Journal: Annals of the rheumatic diseases Issue: Volume 78(2019)Supplement 2 Page Start: 985 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. LACC1 gene mutation in three sisters with polyarthritis without systemic features. Issue 3 (6th December 2019) Authors: Singh, Ankita; Suri, Deepti; Vignesh, Pandiarajan; Anjani, Gummadi; Jacob, Prince; Girisha, Katta M Journal: Annals of the rheumatic diseases Issue: Volume 79:Issue 3(2020) Page Start: 425 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients. Issue 3 (9th November 2021) Authors: Jacob, Prince; Bhavani, Gandham Sri Lakshmi; Shah, Hitesh; Galada, Chelna; Nampoothiri, Sheela; Kamath, Nutan; Phadke, Shubha R.; Muranjan, Mamta; Datar, Chaitanya A.; Shukla, Anju; Girisha, Katta M. Journal: American journal of medical genetics Issue: Volume 188:Issue 3(2022) Page Start: 751 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The third family with Eiken syndrome. Issue 4 (11th July 2019) Authors: Jacob, Prince; Soni, Jai P.; Mortier, Geert; Girisha, Katta M. Journal: Clinical genetics Issue: Volume 96:Issue 4(2019) Page Start: 378 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Three M syndrome 2 in two Indian patients. Issue 2 (1st November 2020) Authors: Jacob, Prince; Girisha, Katta M. Journal: American journal of medical genetics Issue: Volume 185:Issue 2(2021) Page Start: 614 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗