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Molecular Genetics and Metabolism|March 13, 2013
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndromeAnaïs Brassier, Chris Ottolenghi, Audrey Boutron, et al.
Thrombosis and Haemostasis|December 15, 2012
Replacement therapy for bleeding episodes in factor VII deficiency. A prospective evaluationGuglielmo Mariani, Mariasanta Napolitano, Alberto Dolce, et al.
The Journal of Clinical Endocrinology and Metabolism|November 8, 2016
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated PatientsEnzo Cohen, Mohamad Maghnie, Nathalie Collot, et al.
The Journal of Clinical Endocrinology and Metabolism|May 17, 2007
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlationsIrène Netchine, Sylvie Rossignol, Marie-Noëlle Dufourg, et al.
The Lancet. Diabetes & Endocrinology|March 14, 2014
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected]Kanetee Busiah, Séverine Drunat, Laurence Vaivre-Douret, et al.
The New England Journal of Medicine|February 3, 2012
GAD65 antigen therapy in recently diagnosed type 1 diabetes mellitusJohnny Ludvigsson, David Krisky, Rosaura Casas, et al.
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