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Annales D'Endocrinologie|June 22, 2023
46,XX aromatase deficiency: A single-center experience with the varied spectrum and recurrent variants, and a systematic review of hormonal parametersChethan Yami Channaiah, Saba Samad Memon, Vijaya Sarathi, et al.
Annales D'Endocrinologie|April 25, 2025
46, XY under-virilization and NR5A1 variants: Monocentric Indian experience and systematic reviewSandeep Kumar, Reshma Pandit, Vijaya Sarathi, et al.
Calcified Tissue International|November 19, 2023
Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic ReviewManjunath Havalappa Dodamani, Saba Samad Memon, Manjiri Karlekar, et al.
Clinical Endocrinology|February 18, 2024
Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlationAditya Phadte, Charushila Dhole, Samiksha Hegishte, et al.
Calcified Tissue International|January 27, 2023
Genotypic Spectrum and its Correlation with Alopecia and Clinical Response in Hereditary Vitamin D Resistant Rickets: Our Experience and Systematic ReviewManjunath Havalappa Dodamani, Anurag Ranjan Lila, Saba Samad Memon, et al.
European Journal of Endocrinology|June 23, 2020
Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2Sneha Arya, Ankita Tiwari, Anurag Ranjan Lila, et al.
Pituitary|September 7, 2020
Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversityShantanu Kale, Jugal V Gada, Swati Jadhav, et al.
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