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	1.	Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2). [electronic resource] by Scalais, Emmanuel Chafai, Ronit Van Coster, Rudy Bindl, Lutz Nuttin, Christian Panagiotaraki, Chryssa Seneca, Sara Lissens, Willy Ribes, Antonia Geers, Caroline Smet, Joel De Meirleir, Linda Producer: 20140703 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses. [electronic resource] by Scalais, Emmanuel Osterheld, Elise Geron, Christine Pierron, Charlotte Chafai, Ronit Schlesser, Vincent Borde, Patricia Regal, Luc Laeremans, Hilde van Gassen, Koen L I van den Heuvel, L Bert De Meirleir, Linda Publication details: JIMD reports Sep 2019 In: JIMD reports vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. [electronic resource] by Botzenhart, Elke M Green, Andrew Ilyina, Helena König, Rainer Lowry, R Brian Lo, Ivan F M Shohat, Mordechai Burke, Leah McGaughran, Julie Chafai, Ronit Pierquin, Geneviève Michaelis, Ron C Whiteford, Margo L Simola, Kalle O J Rösler, Bernd Kohlhase, Jürgen Producer: 20060728 In: Human mutation vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)