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Respiratory Medicine|April 6, 2025
Diagnostic accuracy of ancillary tests in diagnosis of cystic fibrosis and development of cystic fibrosis clinical diagnostic score: A multicentre prospective cohort studyNitin Dhochak, Rakesh Lodha, Kana Ram Jat, et al.
Rheumatology (Oxford, England)|September 11, 2024
Clinical spectrum of and outcomes for Indian children with deficiency of adenosine deaminase 2 (DADA2): a multicentric studySathish Kumar, Akagri Chugh, Samantha Cheryl Kumar, et al.
Human Mutation|January 27, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in IndiansNeethukrishna Kausthubham, Anju Shukla, Neerja Gupta, et al.
Gene|November 7, 2025
Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regionsMadhumita Roy Chowdhury, Indu Kumari, Kana Ram Jat, et al.
Clinical Genetics|October 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndromeMarcello Niceta, Domenico Barbuti, Neerja Gupta, et al.
American Journal of Hematology|February 13, 2013
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher diseaseHadhami Ben Turkia, Derlis E Gonzalez, Norman W Barton, et al.
Endocrine|September 19, 2020
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from IndiaPriyanka Gangodkar, Vaman Khadilkar, P Raghupathy, et al.
Clinical Genetics|July 31, 2026
Spinal Muscular Atrophy in Adult Neurology Services in IndiaFarsana Mustafa, William L Macken, Lindsay A Wilson, et al.
Movement Disorders Clinical Practice|January 3, 2025
Genetic Landscape of Dystonia in Asian IndiansArti Saini, Inder Singh, Mukesh Kumar, et al.
JIMD Reports|November 18, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patientsSheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, et al.
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