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Human Genetics|July 10, 2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxaBjörn Fischer, Aikaterini Dimopoulou, Johannes Egerer, et al.Indian Journal of Pediatrics|July 7, 2026
Long-Term Outcomes of Enzyme Replacement Therapy in Indian Patients with Gaucher Disease - A Multicentric StudyNeerja Gupta, Devi Saranya S, Shashank Koundinya, et al.Molecular Genetics and Metabolism|September 17, 2013
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaAikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, et al.American Journal of Medical Genetics. Part A|September 25, 2014
GALNS mutations in Indian patients with mucopolysaccharidosis IVAAbdul Mueed Bidchol, Ashwin Dalal, Hitesh Shah, et al.Gene|May 5, 2015
Recurrent and novel GLB1 mutations in IndiaAbdul Mueed Bidchol, Ashwin Dalal, Rakesh Trivedi, et al.Orphanet Journal of Rare Diseases|January 28, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicineJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.Human Genomics|May 10, 2024
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in IndiaHarsh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.Orphanet Journal of Rare Diseases|August 13, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centreJayesh Sheth, Aadhira Nair, Frenny Sheth, et al.American Journal of Medical Genetics. Part A|September 28, 2020
Rubinstein-Taybi syndrome in diverse populationsCedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, et al.American Journal of Medical Genetics. Part A|December 20, 2019
Turner syndrome in diverse populationsPaul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, et al.Pageof 21