Showing results (11-20 of 132) with videos related to
Sort By:
Pageof 14
American Journal of Medical Genetics. Part A|May 8, 2007
Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromesFrancesca Faravelli, Marina Murdolo, Giuseppe Marangi, et al.Prenatal Diagnosis|March 29, 2002
Prenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1Martin de Boer, Vinita Singh, Jan Dekker, et al.Pediatrics|December 24, 2014
Long-term outcome of a successful cord blood stem cell transplant in mevalonate kinase deficiencyStefano Giardino, Edoardo Lanino, Giuseppe Morreale, et al.American Journal of Medical Genetics. Part A|March 5, 2014
Recurrent microdeletion 2q21.1: report on a new patient with neurological disordersStefania Gimelli, Elisavet Stathaki, Frédérique Béna, et al.Human Mutation|April 16, 2005
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based methodSusanna Lualdi, Stefano Regis, Maja Di Rocco, et al.Current Medical Research and Opinion|July 19, 2006
Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patientsStephan Vom Dahl, Ludger Poll, Maja Di Rocco, et al.Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|April 26, 2011
Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3Isabella Giovannoni, Filippo Maria Santorelli, Manila Candusso, et al.Molecular Genetics and Metabolism|December 18, 2007
Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage diseaseMaja Di Rocco, Maria Grazia Calevo, Marina Taro', et al.Molecular Genetics and Metabolism|June 12, 2019
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiencyAnnalisa Madeo, Maja Di Rocco, Anaïs Brassier, et al.AJNR. American Journal of Neuroradiology|June 19, 2003
Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findingsAndrea Rossi, Roberta Biancheri, Claudio Bruno, et al.Pageof 14