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Results 1-10 of 63 (Search time: 0.056 seconds).
Issue DateTitleAuthor(s)
2013Polymorphisms in TREX1 and susceptibility to HIV-1 infectionPONTILLO, A.; GIRARDELLI, M.; CATAMO, E.; DUARTE, A. J.; CROVELLA, S.
2012Mannose-binding lectin and MBL-associated serine protease-2 gene polymorphisms in a Brazilian population from Rio de JaneiroFERRARONI, 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.
2020Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestationHONJO, Rachel Sayuri; VACA, Evelyn Cristina Nunez; LEAL, Gabriela Nunes; ABELLAN, Deipara Monteiro; IKARI, Nana Miura; JATENE, Marcelo Biscegli; MARTINS, Ana Maria; KIM, Chong Ae
2012Cytogenomic 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 karyotypeMELONI, 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
2012Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same FamilyBELANGERO, 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.
2012Atypical Deletion in Williams-Beuren Syndrome Critical Region Detected by MLPA in a Patient with Supravalvular Aortic Stenosis and Learning DifficultyHONJO, Rachel Sayuri; DUTRA, Roberta Lelis; NUNES, Michele Moreira; GOMY, Israel; KULIKOWSKI, Leslie Domenici; JEHEE, Fernanda Sarquis; KIM, Chong Ae
2013Ring chromosome 10: report on two patients and review of the literatureGUILHERME, Roberta Santos; KIM, Chong Ae; ALONSO, Luis Garcia; HONJO, Rachel S.; MELONI, Vera Ayres; CHRISTOFOLINI, Denise Maria; KULIKOWSKI, Leslie Domenici; MELARAGNO, Maria Isabel
2019Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndromeAOI, Hiromi; MIZUGUCHI, Takeshi; CERONI, Jose Ricard; KIM, Veronica Eun Hue; FURQUIM, Isabel; HONJO, Rachel S.; IWAKI, Takuma; SUZUKI, Toshifumi; SEKIGUCHI, Futoshi; UCHIYAMA, Yuri; AZUMA, Yoshiteru; HAMANAKA, Kohei; KOSHIMIZU, Eriko; MIYATAKE, Satoko; MITSUHASHI, Satomi; TAKATA, Atsushi; MIYAKE, Noriko; TAKEDA, Satoru; ITAKURA, Atsuo; BERTOLA, Debora R.; KIM, Chong Ae; MATSUMOTO, Naomichi
2019Autosomal-Recessive Mutations in MESD Cause Osteogenesis ImperfectaMOOSA, 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
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.