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Folia Biologica|December 12, 2007
A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended Indian familyE Flachsová, I C Verma, D Ulbrichová, et al.
Medical and Pediatric Oncology|February 1, 1995
Juvenile chronic myelocytic leukemia--report of 10 casesL S Arya, P Bhatia, Y Jain, et al.
Indian Journal of Pediatrics|April 25, 2009
Utility of family studies in diagnosing abnormal hemoglobins/thalassemic statesAruna Rangan, A Handoo, S Sinha, et al.
Indian Pediatrics|April 1, 1995
A clinical and cytogenetic study of Turner syndromeM Suri, M Kabra, U Jain, et al.
European Journal of Medical Genetics|August 25, 2022
Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasiasIshpreet K Biji, Siddharth Yadav, Samarth Kulshrestha, et al.
Indian Journal of Pediatrics|April 2, 2010
Mutation studies in X-linked myotubular myopathy in three Indian familiesSunita Bijarnia, Ratna D Puri, Monika Jain, et al.
Indian Journal of Pediatrics|October 19, 2016
Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among "Malis (Farmers)" in JodhpurJai Prakash Soni, Ratna D Puri, Kapil Jetha, et al.
Indian Journal of Pediatrics|July 1, 1992
Congenital adrenal hyperplasia: experience at intersex clinic, AIIMSP S Menon, A Virmani, A K Sethi, et al.
Thymus|January 1, 1987
Fetal liver infusion in acute myelogenous leukaemiaV Kochupillai, S Sharma, S Francis, et al.
Acta Neurologica Scandinavica|September 6, 2003
Molecular analysis of Huntington's disease and linked polymorphisms in the Indian populationQ Saleem, S Roy, U Murgood, et al.
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