Article

Karthik, T. and Ranganath, P. and Ramachandran, A. and Uppin, M.S. and Sreeja, P. and Aggarwal, Shagun and Lakshmi, D. and Meena, A.K. and Dalal, Ashwin (2019) Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India. Indian Pediatrics, 56 (7). pp. 556-559. ISSN 0019-6061

Karthik, T. and Aggarwal, Shagun and Bhattacherjee, Amrita and Das Bhowmik, A. and Dalal, Ashwin (2019) Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned? Molecular Syndromology, 10 (3). pp. 177-182. ISSN 1661-8769

Das Bhowmik, A. and Karthik, T. and Uppin, M. and Sundaram, C. and Dalal, Ashwin (2018) Targeted next generation sequencing reveals novel splice site mutations in COL6A3 gene in a patient with congenital muscular dystrophy. Neurology India, 66 (6). pp. 1812-1814. ISSN 0028-3886

Vineeth, V.S. and Dutta, Usha and Karthik, T. and Das Bhowmik, A. and Dalal, Ashwin (2018) Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures. Gene, 673. pp. 56-60. ISSN 0378-1119

Karthik, T. and Venugopal , V. and Dalal, Ashwin and Aggarwal, Shagun (2018) Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. American Journal of Medical Genetics A, 176 (4). pp. 1006-1010. ISSN 1552-4825

Karthik, T. and Ranganath, P. and Dalal, Ashwin (2017) Variable expressivity and response to bisphosphonate therapy in a family with osteoporosis pseudoglioma syndrome. Indian Pediatrics, 54 (8). pp. 681-683. ISSN 0019-6061