Browsing by Author Megarbane, Andre

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Issue DateTitleAuthor(s)Citation
2010A Gain-of-function TBX20 Mutation Causes Congenital Atrial Septal Defects, Patent Foramen Ovale and Cardiac Valve DefectsSunde, Margaret; Al Khatib, Iman; Berger, Felix; Dietz, Rainer; Gramlich, Michael; Harvey, Richard P; Kersten, Andrea; Lee, Stella; Megarbane, Andre; Nemer, Georges; Ozcelik, Cemil; Panek, Anna; Perrot, Andreas; Posch, Maximilian G; Richter, Silke; Schmitt, Katharina R; Stiller, Brigitte; School of Molecular BioscienceA Gain-of-function TBX20 Mutation Causes Congenital Atrial Septal Defects, Patent Foramen Ovale and Cardiac Valve Defects, Journal of Medical Genetics, vol.47, 4,pp 230-235
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
2014Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2Al-Odaib, Ahmad; Burns, Joshua; Carpenter, Kevin; Christodoulou, John; Gold, Wendy; Lek, Monkol; Menezes, Manoj; Ouvrier, Robert; Wang, Min-Xia; Zuchner, Stephen; Abrams, Alexander; Antony, Jayne; Baxter, Peter; Brandner, Sebastian; Broomfield, Alexander; Clayton, P.; Farrell, Michael; Foley, A Reghan; Forman, Eva; Gonzalez, Michael; Hargreaves, Iain; Horvath, Rita; Houlden, Henry; Hughes, Imelda; Jungbluth, Heinz; King, Mary D.; Land, John; Lim, Ming; Lin, Jean-Pierre; Manzur, Adnan; Mathew, Ann; Matsubara, Kazuo; McCullagh, B. Gary; McGarvey, Michael; Megarbane, Andre; Muntoni, Francesco; Ng, Joanne; O’Byrne, James; O'Brien, Katherine; Olpin, Simon; Oppenheim, Marcus; Pandraud, Amelie; Phadke, Rahul; Prasad, Manish; Rahman, Shamima; Reilly, Mary; Scherer, Steven; Scoto, Mariacristina; Shah, Ayaz; Straub, Volker; Sugano, Kumiko; Urtizberea, Jon Andoni; Webster, Richard; Yonezawa, Atsushi; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Children's Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: MedicineTreatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2, Brain, vol.137, Pt 1, 2014,pp 44-56