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Year | Number of Results |
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2020 | 1 |
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Page 1
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):955-964. doi: 10.1002/ajmg.c.31860. Epub 2020 Nov 30.
Am J Med Genet C Semin Med Genet. 2020.
PMID: 33258288
Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients.
Quaio CRAC, Moreira CM, Chung CH, Perazzio SF, Dutra AP, Kim CA.
Quaio CRAC, et al. Among authors: moreira cm.
Mol Biol Rep. 2022 May;49(5):3911-3918. doi: 10.1007/s11033-022-07241-3. Epub 2022 Feb 28.
Mol Biol Rep. 2022.
PMID: 35229241
Review.
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Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned.
Quaio CRDC, Moreira CM, Chung CH, Perazzio SF, Dutra AP, Kim CA.
Quaio CRDC, et al. Among authors: moreira cm.
Sao Paulo Med J. 2022 Sep-Oct;140(5):734-736. doi: 10.1590/1516-3180.2022.0076.R1.21072022.
Sao Paulo Med J. 2022.
PMID: 36102462
Free PMC article.
No abstract available.
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Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.
Quaio CRD'C, Ceroni JRM, Cervato MC, Thurow HS, Moreira CM, Trindade ACG, Furuzawa CR, de Souza RRF, Perazzio SF, Dutra AP, Chung CH, Kim CA.
Quaio CRD'C, et al. Among authors: moreira cm.
Sci Rep. 2022 May 11;12(1):7764. doi: 10.1038/s41598-022-11932-z.
Sci Rep. 2022.
PMID: 35546177
Free PMC article.
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Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.
Quaio CRDC, Chung CH, Perazzio SF, Dutra AP, Moreira CM, Filho GMN, Sacramento-Bobotis PR, Penna MG, de Souza RRF, Cintra VP, Carnavalli JEP, da Silva RA, Paixão D, Baratela WADR, Olivati C, Spolador GM, Santos MNP, Pintao MC, Fornari ARDS, Burger M, Ramalho RF, Pereira OJE, E Ferreira EN, Mitne-Neto M, Kim CA.
Quaio CRDC, et al. Among authors: moreira cm.
Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):364-372. doi: 10.1002/ajmg.c.31932. Epub 2021 Jul 16.
Am J Med Genet C Semin Med Genet. 2021.
PMID: 34269512
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Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.
Quaio CRDC, Obando MJR, Perazzio SF, Dutra AP, Chung CH, Moreira CM, Novo Filho GM, Sacramento-Bobotis PR, Penna MG, Souza RRF, Cintra VP, Carnavalli JEP, Silva RAD, Santos MNP, Paixão D, Baratela WADR, Olivati C, Spolador GM, Pintao MC, Fornari ARDS, Burger M, Ramalho RF, Pereira OJE, Ferreira ENE, Mitne-Neto M, Kim CA.
Quaio CRDC, et al. Among authors: moreira cm.
Genet Mol Biol. 2021 Sep 29;44(4):20210061. doi: 10.1590/1678-4685-GMB-2021-0061. eCollection 2021.
Genet Mol Biol. 2021.
PMID: 34609444
Free PMC article.
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Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.
Buzolin AL, Moreira CM, Sacramento PR, Oku AY, Fornari ARDS, Antonio DSM, Quaio CRDAC, Baratela WR, Mitne-Neto M.
Buzolin AL, et al. Among authors: moreira cm.
Hum Genomics. 2017 Jun 26;11(1):14. doi: 10.1186/s40246-017-0110-x.
Hum Genomics. 2017.
PMID: 28651617
Free PMC article.
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