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Genomics|July 8, 1998
A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C geneP K Jain, A K Lalwani, X C Li, et al.
International Journal of Cardiology. Heart & Vasculature|April 25, 2022
Molecular studies in familial dilated cardiomyopathy - A pilot studyVyom Mori, J P S Sawhney, I C Verma, et al.
Orphanet Journal of Rare Diseases|April 4, 2022
Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertiseI C Verma, A El-Beshlawy, A Tylki-Szymańska, et al.
Annals of Neurology|February 24, 2001
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian familyH Fujigasaki, I C Verma, A Camuzat, et al.
Indian Heart Journal|July 9, 2019
Prevalence of familial hypercholesterolemia in premature coronary artery disease patients admitted to a tertiary care hospital in North IndiaJ P S Sawhney, Shashi Ranjan Prasad, Manish Sharma, et al.
Indian Journal of Pediatrics|July 10, 2026
Organic Acidemias in India: Clinical and Molecular SpectrumSunita Bijarnia-Mahay, Deepti Gupta, Ratna D Puri, et al.
Journal of Hepatology|July 23, 2017
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variantsCarola Dröge, Michele Bonus, Ulrich Baumann, et al.
Clinical Genetics|May 6, 2016
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type IIA Uttarilli, P Ranganath, D Matta, et al.
Human Mutation|December 25, 2007
Recommendations for locus-specific databases and their curationR G H Cotton, A D Auerbach, J S Beckmann, et al.
The Indian Journal of Medical Research|September 27, 2017
Research priorities in Maternal, Newborn, & Child Health & Nutrition for India: An Indian Council of Medical Research-INCLEN InitiativeNarendra K Arora, Soumya Swaminathan, Archisman Mohapatra, et al.
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