9Publications
J Med Screen 2011 13;18(4):173-81. Epub 2011 Dec 13.
MRC Centre of Epidemiology for Child Health, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, United Kingdom.
Clin Chem 2010 Jun 22;56(6):1015-21. Epub 2010 Apr 22.
MRC Centre of Epidemiology for Child Health, Institute of Child Health, University College London, London, UK.
Hum Mutat 2009 May;30(5):741-8
Molecular Medicine and Metabolism, Istituto di Ricovero e Cura a Carattere Scientifico Children's Hospital Bambino Gesù, Rome, Italy.
Am J Med Genet A 2006 Aug;140(15):1684-6
Department of Genetics and Postgraduation Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Turk J Pediatr 2004 Apr-Jun;46(2):170-3
Department of Pediatric Endocrinology and Metabolism, Cukurova University, Faculty of Medicine, Adana, Turkey.
Hum Mutat 2004 Jan;23(1):47-56
Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
J Biol Chem 2003 Aug 13;278(31):29016-23. Epub 2003 May 13.
Unit of Biochemistry and Molecular Biology, International University of Catalonia, Spain.
Am J Med Genet 2002 Aug;111(3):271-84
Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Blood 2002 Mar;99(5):1857-9
Department of Haematology, Royal Manchester Children's Hospital, United Kingdom.