Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI PN Kantaputra, H Kayserili, Y Güven, W Kantaputra, MC Balci, ... Journal of inherited metabolic disease 37, 263-268, 2014 | 58 | 2014 |
Super-rapid race for saving lives by developing COVID-19 vaccines A Uttarilli, S Amalakanti, PR Kommoju, S Sharma, P Goyal, GK Manjunath, ... Journal of Integrative Bioinformatics 18 (1), 27-43, 2021 | 39 | 2021 |
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations PN Kantaputra, H Kayserili, Y Guven, W Kantaputra, MC Balci, ... American Journal of Medical Genetics Part A 164 (6), 1443-1453, 2014 | 32 | 2014 |
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II A Uttarilli, P Ranganath, D Matta, J Md Nurul Jain, K Prasad, AS Babu, ... Clinical genetics 90 (6), 496-508, 2016 | 30 | 2016 |
Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India A Uttarilli, H Shah, GSL Bhavani, P Upadhyai, A Shukla, KM Girisha Bone 120, 204-211, 2019 | 26 | 2019 |
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI A Uttarilli, P Ranganath, SJN Jain, PC Krishna, A Sinha, IC Verma, ... Indian Journal of Medical Research 142 (4), 414-425, 2015 | 12 | 2015 |
Hunter syndrome with late age of presentation: clinical description of a case and review of the literature A Gupta, A Uttarilli, A Dalal, KM Girisha Case Reports 2015, bcr2015209305, 2015 | 8 | 2015 |
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) A Uttarilli, D Pasumarthi, P Ranganath, AB Dalal Gene 599, 19-27, 2017 | 7 | 2017 |
GAPO syndrome with deafness: new feature or incidental finding? S Aggarwal, A Uttarilli, AB Dalal Clinical Dysmorphology 22 (4), 161-163, 2013 | 6 | 2013 |
A review of skeletal dysplasia research in India A Uttarilli, H Shah, A Shukla, KM Girisha Journal of Postgraduate Medicine 64 (2), 98-103, 2018 | 4 | 2018 |
Mongolian spots in GM1 gangliosidosis: a pictorial report S Mishra, P Pai, A Uttarilli, KM Girisha Clinical Dysmorphology 30 (1), 6-9, 2021 | 3 | 2021 |
Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population A Uttarilli, SJMN Jain, AB Dalal, P Ranganath, SR Phadke, G Kumar, ... Molecular Cytogenetics 7, 1-1, 2014 | | 2014 |