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Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.
Zin OA, Neves LM, Motta FL, Horovitz DDG, Guida L, Gomes LHF, Cunha DP, Rodrigues APS, Zin AA, Sallum JMF, Vasconcelos ZFM. Zin OA, et al. Among authors: sallum jmf. Genes (Basel). 2021 Jul 13;12(7):1069. doi: 10.3390/genes12071069. Genes (Basel). 2021. PMID: 34356085 Free PMC article.
Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.
Zin OA, Neves LM, Cunha DP, Motta FL, Agonigi BNS, Horovitz DDG, Almeida DC Jr, Malacarne J, Rodrigues APS, Carvalho AB, Rivello CA, Espariz R, Zin AA, Sallum JMF, Vasconcelos ZFM. Zin OA, et al. Among authors: sallum jmf. Int J Mol Sci. 2023 Jul 25;24(15):11876. doi: 10.3390/ijms241511876. Int J Mol Sci. 2023. PMID: 37569253 Free PMC article.
The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis.
Neves LM, Pinto M, Zin OA, Cunha DP, Agonigi BNS, Motta FL, Gomes LHF, Horovitz DDG, Almeida DC Jr, Malacarne J, Guida L, Braga A, Carvalho AB, Pereira E, Rodrigues APS, Sallum JMF, Zin AA, Vasconcelos ZFM. Neves LM, et al. Among authors: sallum jmf. J Community Genet. 2024 May 10. doi: 10.1007/s12687-024-00708-9. Online ahead of print. J Community Genet. 2024. PMID: 38730191
RNA-based therapies in inherited retinal diseases.
Girach A, Audo I, Birch DG, Huckfeldt RM, Lam BL, Leroy BP, Michaelides M, Russell SR, Sallum JMF, Stingl K, Tsang SH, Yang P. Girach A, et al. Among authors: sallum jmf. Ther Adv Ophthalmol. 2022 Nov 4;14:25158414221134602. doi: 10.1177/25158414221134602. eCollection 2022 Jan-Dec. Ther Adv Ophthalmol. 2022. PMID: 36388727 Free PMC article. Review.
64 results