Search
Mostrar filtros
Add filters:
Use filters to refine the search results.
Results 1-10 of 146 (Search time: 0.081 seconds).
| Issue Date | Title | Author(s) |
|---|---|---|
| 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. |
| 2012 | Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? | BERTOLA, D. R.; PEREIRA, A. C.; BRASIL, A. S.; SUZUKI, L.; LEITE, C.; FALZONI, R.; TANNURI, U.; POPLAWSKI, A. B.; JANOWSKI, K. M.; KIM, C. A.; MESSIAEN, L. M. |
| 2011 | Phenotypic Variation of SF1 Gene Mutations | PHILIBERT, Pascal; PARIS, Francoise; AUDRAN, Francoise; KALFA, Nicolas; POLAK, Michel; THIBAUD, Elisabeth; PINTO, Graziella; HOUANG, Muriel; ZENATY, Delphine; LEGER, Juliane; MAS, Jean-Christophe; PIENKOWSKI, Catherine; EINAUDI, Silvia; DAMIANI, Durval; TEN, Svetlana; SINHA, Sunil; POULAT, Francis; SULTAN, Charles |
| 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 |
| 2018 | Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report | SALVUCCI, Isadora Darriba Macedo; FINZI, Simone; OYAMADA, Maria Kiyoko; KIM, Chong Ae; PIMENTEL, Sergio Luis Gianotti |
| 2018 | Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases | CARNEIRO, Thaise N. R.; KREPISCHI, Ana C. V.; COSTA, Silvia S.; SILVA, Israel Tojal da; VIANNA-MORGANTE, Angela M.; VALIERIS, Renan; EZQUINA, Suzana A. M.; BERTOLA, Debora R.; OTTO, Paulo A.; ROSENBERG, Carla |
| 2013 | New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome | SUZUKI, K. T.; TORRES, L. C.; SUGAYAMA, S. M. M.; ALVES, B. da Costa Aguiar; MOREIRA-FILHO, C. A.; CARNEIRO-SAMPAIO, M. |
| 2012 | A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder | GRIESI-OLIVEIRA, Karina; MOREIRA, Danielle de Paula; DAVIS-WRIGHT, Nicole; SANDERS, Stephan; MASON, Christopher; ORABONA, Guilherme Mueller; VADASZ, Estevao; BERTOLA, Debora Romeo; STATE, Matthew W.; PASSOS-BUENO, Maria Rita |
| 2012 | Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB | ZANKL, 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. |