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The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Hum Genomics. 2023 Nov 16;17(1):102. doi: 10.1186/s40246-023-00549-6.
Hum Genomics. 2023.
PMID: 37968704
Free PMC article.
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC, Coelho AVC, Moura LMS, Guedes RLM, Chen K, Ceroni JRM, Minillo RM, Caraciolo MP, Reis RS, de Azevedo BMC, Nobrega MS, Teixeira ACB, Martinelli Lima M, da Mota TR, da Matta MC, Colichio GBC, Roncalho AL, Ferreira AFM, Campilongo GP, Perrone E, Virmond LDA, Moreno CA, Prota JRM, de França M, Cervato MC, de Almeida TF, de Oliveira Filho JB.
Quaio CRAC, et al. Among authors: prota jrm.
Front Genet. 2022 Aug 30;13:921324. doi: 10.3389/fgene.2022.921324. eCollection 2022.
Front Genet. 2022.
PMID: 36147510
Free PMC article.
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Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability.
Nascimento CG, Prota JRM, Sgardioli IC, Spineli-Silva S, Campos NLV, Gil-da-Silva-Lopes VL, Vieira TP.
Nascimento CG, et al. Among authors: prota jrm.
Genes (Basel). 2023 Apr 9;14(4):885. doi: 10.3390/genes14040885.
Genes (Basel). 2023.
PMID: 37107643
Free PMC article.
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A new phenotype associated with homozygous GRN mutations: complicated spastic paraplegia.
Faber I, Prota JR, Martinez AR, Lopes-Cendes I, França MC Júnior.
Faber I, et al.
Eur J Neurol. 2017 Jan;24(1):e3-e4. doi: 10.1111/ene.13194.
Eur J Neurol. 2017.
PMID: 28000352
No abstract available.
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Inflammatory demyelinating neuropathy heralding accelerated chediak-higashi syndrome.
Faber IV, Prota JRM, Martinez ARM, Nucci A, Lopes-Cendes I, Júnior MCF.
Faber IV, et al. Among authors: prota jrm.
Muscle Nerve. 2017 May;55(5):756-760. doi: 10.1002/mus.25414. Epub 2017 Feb 3.
Muscle Nerve. 2017.
PMID: 27669550
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Genetic structure of natural populations of Aedes aegypti at the micro- and macrogeographic levels in Brazil.
Ayres CE, Melo-Santos MA, Prota JR, Solé-Cava AM, Regis L, Furtado AE.
Ayres CE, et al.
J Am Mosq Control Assoc. 2004 Dec;20(4):350-6.
J Am Mosq Control Assoc. 2004.
PMID: 15669374
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