Browsing by Author Mendoza-Londono, Roberto

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Issue DateTitleAuthor(s)Citation
2010De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunctionAdes, Lesley; Ala-Kokko, Leena; Bradley, Timothy J.; Buja, Maximilian; Grange, Dorothy; Guo, Dong-Chuan; Haskins Olney, Ann; Hyland, James C.; Khan, Nadia; Kim, Dong; Maher, Joseph F; Mendoza-Londono, Roberto; Milewicz, Dianna M.; Ostergaard, John R.; Regalado, Ellen S.; Children's Hospital Westmead: Paediatrics & Child HealthDe novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction, American Journal of Medical Genetics. Part A, vol.152A, 10,pp 2437-2443
2010Phenotypic Features of Carbohydrate Sulfotransferase 3 (CHST3) Deficiency in 24 Patients: Congenital Dislocations and Vertebral Changes as Principal Diagnostic FeaturesLiberty B. Alcausin, Maria Melanie; Sillence, David; Afroze, Bushra; Aytes, Antonio; et al, various; Franco, Luis M.; Godbole, Komudi; Hall, Bryan; Hoefele, Julia; Lam, Stephen T.S.; Lausch, Ekkehart; Lo, Ivan F.M.; Mangold, Elisabeth; Megarbane, Andre; Mendoza-Londono, Roberto; Nampoothiri, Sheela; Rossi, Antonio; Rost, Imma; Unger, Sheila; Vatanavicharn, Nithiwat; Wakeling, Emma; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthPhenotypic Features of Carbohydrate Sulfotransferase 3 (CHST3) Deficiency in 24 Patients: Congenital Dislocations and Vertebral Changes as Principal Diagnostic Features, American Journal of Medical Genetics. Part A, vol.152A, 10,pp 2543-2549