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Results 1-10 of 84 (Search time: 0.259 seconds).
Issue DateTitleAuthor(s)
2012The first cardiac transplant experience in a patient with mucopolysaccharidosisGRINBERG, 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
2012A clinical follow-up of 35 Brazilian patients with Prader-Willi SyndromeQUAIO, 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
2012Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndromeSMITH, 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
2012Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndromeGRAY, Mary J.; KIM, Chong Ae; BERTOLA, Debora Romeo; ARANTES, Paula Ricci; STEWART, Helen; SIMPSON, Michael A.; IRVING, Melita D.; ROBERTSON, Stephen P.
2011Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countriesJEHEE, 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
2012Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 regionSOARES, Diogo Cordeiro de Queiroz; DUTRA, Roberta Lelis; QUAIO, Caio Robledo D'angioli Costa; MELARAGNO, Maria Isabel; KULIKOWSKI, Leslie Domenici; TORRES, Leuridan Cavalcante; KIM, Chong Ae
2012Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFBZANKL, Andreas; DUNCAN, Emma L.; LEO, Paul J.; CLARK, Graeme R.; GLAZOV, Evgeny A.; ADDOR, Marie-Claude; HERLIN, Troels; KIM, Chong Ae; LEHEUP, Bruno P.; MCGILL, Jim; MCTAGGART, Steven; MITTAS, Stephan; MITCHELL, Anna L.; MORTIER, Geert R.; ROBERTSON, Stephen P.; SCHROEDER, Marie; TERHAL, Paulien; BROWN, Matthew A.
2012Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor SyndromeHOOD, Rebecca L.; LINES, Matthew A.; NIKKEL, Sarah M.; SCHWARTZENTRUBER, Jeremy; BEAULIEU, Chandree; NOWACZYK, Malgorzata J. M.; ALLANSON, Judith; KIM, Chong Ae; WIECZOREK, Dagmar; MOILANEN, Jukka S.; LACOMBE, Didier; GILLESSEN-KAESBACH, Gabriele; WHITEFORD, Margo L.; QUAIO, Caio Robledo D. C.; GOMY, Israel; BERTOLA, Debora R.; ALBRECHT, Beate; PLATZER, Konrad; MCGILLIVRAY, George; ZOU, Ruobing; MCLEOD, D. Ross; CHUDLEY, Albert E.; CHODIRKER, Bernard N.; MARCADIER, Janet; MAJEWSKI, Jacek; BULMAN, Dennis E.; WHITE, Susan M.; BOYCOTT, Kym M.
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
2013Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variantsD'ANGELO, Carla Sustek; KOHL, Ilana; VARELA, Monica Castro; CASTRO, Claudia Irene Emilio de; KIM, Chong Ae; BERTOLA, Debora Romeo; LOURENCO, Charles Marques; PEREZ, Ana Beatriz Alvarez; KOIFFMANN, Celia Priszkulnik