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Results 1-10 of 15 (Search time: 0.087 seconds).
Issue DateTitleAuthor(s)
2020Investigation of the DNA methylation profile in children presenting emergence deliriumQUINTAO, V.; GASPARINI, Y.; ALMEIDA, V.; DIAS, A.; MONTENEGRO, M.; CARMONA, M.; KULIKOWSKI, L.
2020Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin AmericaSOLANO, Martha L.; FAINBOIM, Alejandro; POLITEI, Juan; PORRAS-HURTADO, Gloria L.; MARTINS, Ana Maria; SOUZA, Carolina F. Moura; KOCH, Felipe Mendez; AMARTINO, Hernan; SATIZABAL, Jose Maria; HOROVITZ, Dafne D. G.; V, Paula F. Medeiros; HONJO, Rachel S.; LOURENCO, Charles M.
2020Case of 15q26-qter deletion associated with a Prader-Willi phenotypeSANTOS, Jessica Fernandes dos; ACOSTA, Angelina Xavier; SCHEIBLER, Gabriela Gayer; PITANGA, Paula Monique Leite; ALVES, Esmeralda Santos; MEIRA, Joanna Goes Castro; ZANARDO, Evelin Aline; KULIKOWSKI, Leslie Domenici; LIMA, Renata Lucia Leite Ferreira de; CARVALHO, Acacia Fernes Lacerda de
2020Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cryCHEHIMI, Samar N.; ZANARDO, Evelin A.; CERONI, Jose R. M.; NASCIMENTO, Amom M.; MADIA, Fabricia A. R.; DIAS, Alexandre T.; FILHO, Gil M. N.; MONTENEGRO, Marlia M.; DAMASCENO, Jullian; COSTA, Thas V. M. M.; GASPARINI, Yanca; KIM, Chong A.; KULIKOWSKI, Leslie D.
2020Efficacy of MLPA for detection of Y-chromosome microdeletions in infertile Brazilian patientsFRANCHIM, C. S.; SOARES-JUNIOR, J. M.; SERAFINI, P. C.; MONTELEONE, P. A. A.; COCCUZZA, M. S.; ZANARDO, E. A.; MONTENEGRO, M. M.; DIAS, A. T.; KULIKOWSKI, L. D.; BARACAT, E. C.
2020Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophyMENDONCA, Rodrigo de Holanda; JR, Ciro Matsui; POLIDO, Graziela Jorge; SILVA, Andre Macedo Serafim; KULIKOWSKI, Leslie; DIAS, Alexandre Torchio; ZANARDO, Evelin Aline; SOLLA, Davi Jorge Fontoura; GURGEL-GIANNETTI, Juliana; MOURA, Ana Carolina Monteiro Lessa de; SAMPAIO, Gabriela Palhares Campolina; OLIVEIRA, Acary Souza Bulle; SOUZA, Paulo Victor Sgobbi de; PINTO, Wladimir Bocca Vieira de Rezende; GONCALVES, Eduardo Augusto; FARIAS, Igor Braga; NARDES, Flavia; ARAUJO, Alexandra Prufer de Queiroz Campos; JR, Wilson Marques; TOMASELLI, Pedro Jose; RIBEIRO, Mara Dell Ospedale; KITAJIMA, Joao Paulo; MONTEIRO, Fabiola Paoli; SAUTE, Jonas Alex Morales; BECKER, Michele Michelin; SARAIVA-PEREIRA, Maria Luiza; BRUSIUS-FACCHIN, Ana Carolina; LINDEN, Vanessa van der; FLORENCIO, Rodrigo Neves; BARBOSA, Andre Vinicius Soares; MACHADO-COSTA, Marcela Camara; PESSOA, Andre Luiz Santos; SOUZA, Leticia Silva; JR, Marcondes Cavalcante Franca; KOK, Fernando; REED, Umbertina Conti; ZANOTELI, Edmar
2020Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in BrazilBERTOLA, Debora R.; CASTRO, Matheus A. A.; YAMAMOTO, Guilherme L.; HONJO, Rachel S.; CERONI, Jose Ricardo; BUSCARILLI, Michele M.; FREITAS, Amanda B.; MALAQUIAS, Alexsandra C.; PEREIRA, Alexandre C.; JORGE, Alexander A. L.; PASSOS-BUENO, Maria Rita; KIM, Chong A.
2020Rabies virus diversification in aerial and terrestrial mammalsOLIVEIRA, Rafael N.; FREIRE, Caio C.; IAMARINO, Atila; ZANOTTO, Paolo M.; PESSOA, Rodrigo; SANABANI, Sabri S.; SOUZA, Sibele Pinheiro de; CASTILHO, Juliana G.; BATISTA, Helena B. C. R.; JR, Pedro Carnieli; I, Carla Macedo; WATANABE, Jaqueline T.; BRANDAO, Paulo E.
2020Phenotypic heterogeneity in 22q11.2 deletion syndrome: CNVs as genetic modifiers for congenital heart disease in a Brazilian cohortZAMARIOLLI, M.; DANTAS, A. G.; NUNES, N.; MOYSES-OLIVEIRA, M.; SGARDIOLI, I. C.; SOARES, D. C. Q.; GIL-DA-SILVA-LOPES, V. L.; KIM, C. A.; MELARAGNO, M. I.
2020Identifying NAHR mechanism between two distinct Alu elements through breakpoint junction mapping by NGSNOVO-FILHO, Gil M.; CARVALHO, Gleyson F. S.; NASCIMENTO, Amom M.; MONTENEGRO, Marilia M.; DAMASCENO, Jullian G.; ZANARDO, Evelin A.; CHEHIMI, Samar N.; OLIVEIRA, Yanca G.; DIAS, Alexandre T.; KIM, Chong A.; KULIKOWSKI, Leslie D.