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148 results

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New microdeletion and microduplication syndromes: A comprehensive review.
Nevado J, Mergener R, Palomares-Bralo M, Souza KR, Vallespín E, Mena R, Martínez-Glez V, Mori MÁ, Santos F, García-Miñaur S, García-Santiago F, Mansilla E, Fernández L, de Torres ML, Riegel M, Lapunzina P. Nevado J, et al. Among authors: riegel m. Genet Mol Biol. 2014 Mar;37(1 Suppl):210-9. doi: 10.1590/s1415-47572014000200007. Genet Mol Biol. 2014. PMID: 24764755 Free PMC article. Review.
A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings.
Glaeser AB, Diniz BL, Santos AS, Guaraná BB, Muniz VF, Carlotto BS, Everling EM, Noguchi PY, Garcia AR, Miola J, Riegel M, Mergener R, Gazzola Zen PR, Machado Rosa RF. Glaeser AB, et al. Among authors: riegel m. Eur J Med Genet. 2021 Nov;64(11):104319. doi: 10.1016/j.ejmg.2021.104319. Epub 2021 Aug 30. Eur J Med Genet. 2021. PMID: 34474176
A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity.
Artigalás O, Paskulin G, Riegel M, Burin M, Saraiva-Pereira ML, Maluf S, Kiss A, Schwartz IV. Artigalás O, et al. Among authors: riegel m. Genet Mol Biol. 2012 Apr;35(2):424-7. doi: 10.1590/S1415-47572012000300007. Epub 2012 Jun 23. Genet Mol Biol. 2012. PMID: 22888290 Free PMC article.
Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.
Vieira TA, Trapp FB, Souza CFM, Faccini LS, Jardim LB, Schwartz IVD, Riegel M, Vargas CR, Burin MG, Leistner-Segal S, Ashton-Prolla P, Giugliani R. Vieira TA, et al. Among authors: riegel m. Genet Mol Biol. 2019;42(1 suppl 1):155-164. doi: 10.1590/1678-4685-GMB-2018-0214. Epub 2019 Jun 10. Genet Mol Biol. 2019. PMID: 31188934 Free PMC article.
Population medical genetics: translating science to the community.
Giugliani R, Bender F, Couto R, Bochernitsan A, Brusius-Facchin AC, Burin M, Amorim T, Acosta AX, Purificação A, Leistner-Segal S, Saraiva-Pereira ML, Jardim LB, Matte U, Riegel M, Cardoso-Dos-Santos AC, Rodrigues G, Oliveira MZ, Tagliani-Ribeiro A, Heck S, Dresch V, Schuler-Faccini L, Kubaski F. Giugliani R, et al. Among authors: riegel m. Genet Mol Biol. 2019;42(1 suppl 1):312-320. doi: 10.1590/1678-4685-GMB-2018-0096. Epub 2019 Apr 11. Genet Mol Biol. 2019. PMID: 30985854 Free PMC article.
148 results