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Results 1-10 of 123 (Search time: 0.035 seconds).
| Issue Date | Title | Author(s) |
|---|---|---|
| 2017 | Displasias esqueléticas | KIM, Chong Ae; BERTOLA, Débora Romeo; ALBANO, Lilian Maria José |
| 2012 | The first cardiac transplant experience in a patient with mucopolysaccharidosis | GRINBERG, Henrique; QUAIO, Caio Robledo D'Angioli Costa; AVILA, Monica Samuel; FERREIRA, Silvia Moreira Ayub; VIEIRA, Marcelo Luiz Campos; BENVENUTI, Luiz Alberto; KIM, Chong Ae; BOCCHI, Edimar Alcides |
| 2012 | A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome | QUAIO, Caio Robledo D'Angioli Costa; ALMEIDA, Tatiana Ferreira de; ALBANO, Lilian Maria Jose; GOMY, Israel; BERTOLA, Debora Romeo; VARELA, Monica Castro; KOIFFMANN, Celia P.; KIM, Chong Ae |
| 2012 | Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome | SMITH, Holly; GALMES, Romain; GOGOLINA, Ekaterina; STRAATMAN-IWANOWSKA, Anna; REAY, Kim; BANUSHI, Blerida; BRUCE, Christopher K.; CULLINANE, Andrew R.; ROMERO, Rene; CHANG, Richard; ACKERMANN, Oanez; BAUMANN, Clarisse; CANGUL, Hakan; CELIK, Fatma Cakmak; AYGUN, Canan; COWARD, Richard; DIONISI-VICI, Carlo; SIBBLES, Barbara; INWARD, Carol; KIM, Chong Ae; KLUMPERMAN, Judith; KNISELY, A. S.; WATSON, Steven P.; GISSEN, Paul |
| 2012 | Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome | GRAY, Mary J.; KIM, Chong Ae; BERTOLA, Debora Romeo; ARANTES, Paula Ricci; STEWART, Helen; SIMPSON, Michael A.; IRVING, Melita D.; ROBERTSON, Stephen P. |
| 2013 | Clinical, cytogenetic and molecular characterization of three patients with r(22), including one with 22q11.2 deletion | GUILHERME, Roberta Santos; KIM, Chong Ae; BRUNONI, Decio; SPINNER, Nancy Bettina; CONLIN, Laura Kathleen; DABER, Robert; CHRISTOFOLINI, Denise Maria; KULIKOWSKI, Leslie Domenici; MELARAGNO, Maria Isabel |
| 2015 | Cytogenomic investigation in patients with Oculoauriculovertebral Spectrum (OAVS) and candidate loci relevant to phenotype | COLOVATI, Mileny Esbravatti Stephano; BRAGAGNOLO, Silvia; GUILHERME, Roberta Santos; DANTAS, Anelisa Gollo; SOARES, Maria de Fatima; KIM, Chong Ae; PEREZ, Ana Beatriz Alvarez; MELARAGNO, Maria Isabel |
| 2015 | Evaluation of gene expression and cytogenomic study in patients with 22q11.2 deletion | DANTAS, Anelisa Gollo; MAZZOTTI, Diego; BORTOLAI, Adriana; COLOVATI, Mileny; GUILHERME, Roberta Santos; MOYSES-OLIVEIRA, Mariana; MELONI, Vera Ayres; KIM, Chong Ae; MELARAGNO, Maria Isabel |
| 2015 | Síndromes genéticas associadas à obesidade | KIM, Chong Ae; ALBANO, Lilian Maria José; BERTOLA, Débora Romeo |
| 2011 | Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries | JEHEE, Fernanda Sarquis; TAKAMORI, Jean Tetsuo; MEDEIROS, Paula F. Vasconcelos; PORDEUS, Ana Carolina B.; LATINI, Flavia Roche M.; BERTOLA, Debora Romeo; KIM, Chong Ae; PASSOS-BUENO, Maria Rita |