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Year | Number of Results |
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2020 | 4 |
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Page 1
MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia.
Indian J Pediatr. 2020 Mar;87(3):227-228. doi: 10.1007/s12098-019-03100-5. Epub 2019 Nov 14.
Indian J Pediatr. 2020.
PMID: 31724101
No abstract available.
A Novel Biallelic Splice Site Variant in the SPARC Gene Causing Severe Osteogenesis Imperfecta.
Selina A, James D, Madhuri V.
Selina A, et al.
Indian J Pediatr. 2023 Jun;90(6):626. doi: 10.1007/s12098-023-04541-9. Epub 2023 Mar 30.
Indian J Pediatr. 2023.
PMID: 36995644
No abstract available.
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A Recurrent Biallelic Pathogenic Variant in TBXAS1 Gene Causing Ghosal Hematodiaphyseal Dysplasia.
Selina A, Kandagaddala M, Madhuri V.
Selina A, et al.
Indian J Pediatr. 2021 Apr;88(4):381-382. doi: 10.1007/s12098-020-03581-9. Epub 2020 Nov 27.
Indian J Pediatr. 2021.
PMID: 33244729
No abstract available.
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SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India.
Selina A, Kandagaddala M, Kumar V, Abraham SSC, Danda S, Madhuri V.
Selina A, et al.
Bone Rep. 2023 May 26;18:101690. doi: 10.1016/j.bonr.2023.101690. eCollection 2023 Jun.
Bone Rep. 2023.
PMID: 37425194
Free PMC article.
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Perthes-Like Disorder in a Child with Atypical Bohring-Opitz Syndrome.
Altaf MT, Kandagaddala M, Selina A, Madhuri V.
Altaf MT, et al. Among authors: selina a.
JBJS Case Connect. 2024 Jan 5;14(1). doi: 10.2106/JBJS.CC.23.00433. eCollection 2024 Jan 1.
JBJS Case Connect. 2024.
PMID: 38181165
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Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.
Madhuri V, Selina A, Loganathan L, Kumar A, Kumar V, Raymond R, Ramesh S, Vincy N, Joel G, James D, Kandagaddala M, B A.
Madhuri V, et al. Among authors: selina a.
Ann Hum Genet. 2021 Jan;85(1):37-46. doi: 10.1111/ahg.12403. Epub 2020 Aug 7.
Ann Hum Genet. 2021.
PMID: 32770541
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Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation.
Selina A, John D, Loganathan L, Madhuri V.
Selina A, et al.
Indian J Ophthalmol. 2020 Nov;68(11):2545-2547. doi: 10.4103/ijo.IJO_325_20.
Indian J Ophthalmol. 2020.
PMID: 33120686
Free PMC article.
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