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Neurology India|July 21, 2010
Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinentParag M Tamhankar, Shubha R PhadkeJournal of Orthopaedic Case Reports|September 21, 2020
X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from IndiaParag M Tamhankar, Abhishek Kulkarni, Lakshmi VasudevanCases Journal|January 22, 2009
Cutaneous mastocytosis. Getting beneath the skin of the issue: a case reportParag M Tamhankar, Jyoti Suvarna, Chandrahas T DeshmukhIndian Journal of Pediatrics|January 22, 2010
Identification of DKC1 gene mutation in an Indian patientParag M Tamhankar, Meina Zhao, Hirokazu Kanegane, et al.Cureus|November 4, 2024
A Rare Co-occurrence of Williams Syndrome and 𝘛𝘕𝘒2 Gene-Related EpilepsySumathi Angel, Badiginchala Naga Jyothi, Chinthalapalli Prakash Ravikumar, et al.Cureus|October 18, 2024
Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case ReportParag M Tamhankar, Pramila Menon, Shailaja V Mane, et al.Indian Pediatrics|November 15, 2011
Profile of patients with Von Gierke disease from IndiaParag M Tamhankar, Vijayraju Boggula, K M Girisha, et al.Journal of Human Genetics|November 20, 2015
Clinical, biochemical and mutation profile in Indian patients with Sandhoff diseaseParag M Tamhankar, Mehul Mistri, Pratima Kondurkar, et al.BMJ Case Reports|December 4, 2024
Child with KBG syndromeBadiginchala Naga Jyothi, Sumathi Angel, Chinthalapalli Prakash Ravi Kumar, et al.Indian Journal of Pediatrics|April 26, 2014
Neonatal severe hyperparathyroidism due to compound heterozygous mutation of calcium sensing receptor (CaSR) gene presenting as encephalopathyAbhishek Kulkarni, Mahesh Mohite, Ramaa Vijaykumar, et al.Pageof 3