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Results 1-10 of 64 (Search time: 0.127 seconds).
| Issue Date | Title | Author(s) |
|---|---|---|
| 2013 | Polymorphisms in TREX1 and susceptibility to HIV-1 infection | PONTILLO, A.; GIRARDELLI, M.; CATAMO, E.; DUARTE, A. J.; CROVELLA, S. |
| 2012 | Mannose-binding lectin and MBL-associated serine protease-2 gene polymorphisms in a Brazilian population from Rio de Janeiro | FERRARONI, N. R.; SEGAT, L.; GUIMARAES, R. L.; BRANDAO, L. A. C.; CROVELLA, S.; CONSTANTINO-SILVA, R. N.; LOJA, C.; DUARTE, A. J. da Silva; GRUMACH, A. S. |
| 2012 | Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype | MELONI, Vera de Freitas Ayres; PIAZZON, Flavia Balbo; SOARES, Maria de Fatima de Faria; TAKENO, Sylvia Satomi; CHRISTOFOLINI, Denise Maria; KULIKOWSKI, Leslie Domenici; BRUNONI, Decio; MELARAGNO, Maria Isabel |
| 2012 | Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family | BELANGERO, S. I.; PACANARO, A. N. X.; BELLUCCO, F. T.; CHRISTOFOLINI, D. M.; KULIKOWSKI, L. D.; GUILHERME, R. S.; BORTOLAI, A.; DUTRA, A. R. N.; PIAZZON, F. B.; CERNACH, M. C.; MELARAGNO, M. I. |
| 2012 | Atypical Deletion in Williams-Beuren Syndrome Critical Region Detected by MLPA in a Patient with Supravalvular Aortic Stenosis and Learning Difficulty | HONJO, Rachel Sayuri; DUTRA, Roberta Lelis; NUNES, Michele Moreira; GOMY, Israel; KULIKOWSKI, Leslie Domenici; JEHEE, Fernanda Sarquis; KIM, Chong Ae |
| 2013 | Ring chromosome 10: report on two patients and review of the literature | GUILHERME, Roberta Santos; KIM, Chong Ae; ALONSO, Luis Garcia; HONJO, Rachel S.; MELONI, Vera Ayres; CHRISTOFOLINI, Denise Maria; KULIKOWSKI, Leslie Domenici; MELARAGNO, Maria Isabel |
| 2019 | Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta | MOOSA, Shahida; YAMAMOTO, Guilherme L.; GARBES, Lutz; KEUPP, Katharina; BELEZA-MEIRELES, Ana; MORENO, Carolina Araujo; VALADARES, Eugenia Ribeiro; SOUSA, Sergio B. de; MAIA, Sofia; SARAIVA, Jorge; HONJO, Rachel S.; KIM, Chong Ae; MENEZES, Hamilton Cabral de; LAUSCH, Ekkehart; LORINI, Pablo Villavicencio; LAMOUNIER JR., Arsonval; CARNIERO, Tulio Canella Bezerra; GIUNTA, Cecilia; ROHRBACH, Marianne; JANNER, Marco; SEMLER, Oliver; BELEGGIA, Filippo; LI, Yun; YIGIT, Goekhan; REINTJES, Nadine; ALTMUELLER, Janine; NUERNBERG, Peter; CAVALCANTI, Denise P.; ZABEL, Bernhard; WARMAN, Matthew L.; BERTOLA, Debora R.; WOLLNIK, Bernd; NETZER, Christian |
| 2020 | Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America | SOLANO, 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. |
| 2020 | Case of 15q26-qter deletion associated with a Prader-Willi phenotype | SANTOS, 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 |
| 2020 | Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry | CHEHIMI, 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. |