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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 3
2014 1
2015 5
2016 7
2017 2
2018 4
2019 7
2020 5
2021 7
2022 11
2023 12
2024 7

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50 results

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Page 1
Progressive Pseudorheumatoid Dysplasia.
Bhavani GS, Shah H, Shukla A, Dalal A, Girisha KM. Bhavani GS, et al. 2015 Nov 25 [updated 2020 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Nov 25 [updated 2020 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 26610319 Free Books & Documents. Review.
Multicentric Osteolysis Nodulosis and Arthropathy.
Bhavani GS, Shah H, Shukla A, Girisha KM. Bhavani GS, et al. 2016 Jul 14 [updated 2023 Mar 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Jul 14 [updated 2023 Mar 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 27413800 Free Books & Documents. Review.
EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity.
Bhavani GS, Singh S, Girisha KM. Bhavani GS, et al. 2023 May 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2023 May 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 37229238 Free Books & Documents. Review.
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A. Pande S, et al. Among authors: bhavani gs. Eur J Hum Genet. 2023 Dec 20. doi: 10.1038/s41431-023-01513-7. Online ahead of print. Eur J Hum Genet. 2023. PMID: 38114583
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Jacob P, Lindelöf H, Rustad CF, Sutton VR, Moosa S, Udupa P, Hammarsjö A, Bhavani GS, Batkovskyte D, Tveten K, Dalal A, Horemuzova E, Nordgren A, Tham E, Shah H, Merckoll E, Orellana L, Nishimura G, Girisha KM, Grigelioniene G. Jacob P, et al. Among authors: bhavani gs. NPJ Genom Med. 2023 Nov 22;8(1):39. doi: 10.1038/s41525-023-00380-x. NPJ Genom Med. 2023. PMID: 37993442 Free PMC article.
Exome Sequencing in Monogenic Forms of Rickets.
Jacob P, Bhavani GS, Udupa P, Wang Z, Hariharan SV, Delampady K, Dalal A, Kamath N, Ikegawa S, Shenoy RD, Handattu K, Shah H, Girisha KM. Jacob P, et al. Among authors: bhavani gs. Indian J Pediatr. 2023 Dec;90(12):1182-1190. doi: 10.1007/s12098-022-04393-9. Epub 2023 Jan 24. Indian J Pediatr. 2023. PMID: 36692815 Free PMC article.
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.
Jacob P, Bhavani GSL, Shah H, Galada C, Nampoothiri S, Kamath N, Phadke SR, Muranjan M, Datar CA, Shukla A, Girisha KM. Jacob P, et al. Among authors: bhavani gsl. Am J Med Genet A. 2022 Mar;188(3):751-759. doi: 10.1002/ajmg.a.62566. Epub 2021 Nov 9. Am J Med Genet A. 2022. PMID: 34750995
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.
Singh S, Shah H, Dalal A, Shukla A, Bhavani GS, Girisha KM. Singh S, et al. Among authors: bhavani gs. Am J Med Genet A. 2024 Aug;194(8):e63601. doi: 10.1002/ajmg.a.63601. Epub 2024 Apr 2. Am J Med Genet A. 2024. PMID: 38562122
Bosley-Salih-Alorainy syndrome in patients from India.
Patil SJ, Karthik GA, Bhavani GS, Bhat V, Matalia J, Shah J, Shukla A, Girisha KM. Patil SJ, et al. Among authors: bhavani gs. Am J Med Genet A. 2020 Nov;182(11):2699-2703. doi: 10.1002/ajmg.a.61809. Epub 2020 Aug 31. Am J Med Genet A. 2020. PMID: 32864817
50 results