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Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.
Jacob P, Singh S, Bhavani GS, Gowrishankar K, Narayanan DL, Nampoothiri S, Patil SJ, Soni JP, Muranjan M, Kapoor S, Dhingra B, Bhat BV, Bajaj S, Banerjee A, Mamadapur M, Hariharan SV, Kamath N, Shenoy RD, Suri D, Shukla A, Dalal A, Phadke SR, Nishimura G, Mortier G, Shah H, Girisha KM. Jacob P, et al. Among authors: patil sj. Eur J Hum Genet. 2024 Dec 20. doi: 10.1038/s41431-024-01776-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39706863
HOXA1-Related Disorders.
Jacob P, Bhat V, Patil SJ. Jacob P, et al. Among authors: patil sj. 2024 Nov 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2024 Nov 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 39541495 Free Books & Documents. Review.
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
Kaur N, do Rosario MC, Majethia P, Mascarenhas S, Rao LP, Nair KV, Hunakunti B, Prasannakumar AP, Naik R, Narayanan DL, Nayak SS, Bhat V, Sharma S, Ramesh Bhat Y, Yatheesha BL, Kulkarni R, Patil SJ, Nampoothiri S, Siddiqui S, Girisha KM, Bielas S, Shukla A. Kaur N, et al. Among authors: patil sj. Am J Med Genet A. 2024 Oct 29:e63914. doi: 10.1002/ajmg.a.63914. Online ahead of print. Am J Med Genet A. 2024. PMID: 39470296
113 results