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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.
The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients.
de Oliveira JM, Zurro NB, Coelho AVC, Caraciolo MP, de Alexandre RB, Cervato MC, Minillo RM, de Vasconcelos Carvalho Neto G, Grivicich I, Oliveira JB.
de Oliveira JM, et al. Among authors: minillo rm.
Eur J Hum Genet. 2022 Jul;30(7):818-823. doi: 10.1038/s41431-022-01098-7. Epub 2022 May 9.
Eur J Hum Genet. 2022.
PMID: 35534704
Free PMC article.
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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: minillo rm.
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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Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
Araujo TF, Ribeiro EM, Arruda AP, Moreno CA, de Medeiros PF, Minillo RM, Melo DG, Kim CA, Doriqui MJ, Felix TM, Fock RA, Cavalcanti DP.
Araujo TF, et al. Among authors: minillo rm.
Eur J Med Res. 2016 Aug 24;21(1):33. doi: 10.1186/s40001-016-0228-7.
Eur J Med Res. 2016.
PMID: 27558267
Free PMC article.
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Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features.
Mancini TI, Oliveira MM, Dutra AR, Perez AB, Minillo RM, Takeno SS, Melaragno MI.
Mancini TI, et al. Among authors: minillo rm.
Mol Syndromol. 2012 Jun;3(1):39-43. doi: 10.1159/000338468. Epub 2012 May 11.
Mol Syndromol. 2012.
PMID: 22855654
Free PMC article.
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Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.
Minillo RM, Sobreira N, de Faria Soares Mde F, Jurgens J, Ling H, Hetrick KN, Doheny KF, Valle D, Brunoni D, Perez AB.
Minillo RM, et al.
Mol Syndromol. 2014 Dec;5(6):268-75. doi: 10.1159/000369108. Epub 2014 Nov 25.
Mol Syndromol. 2014.
PMID: 25565926
Free PMC article.
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