Publications by authors named "Ronit Chafai"

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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.
Emmanuel Scalais, Elise Osterheld, Christine Geron, Charlotte Pierron, Ronit Chafai

JIMD Rep· September 2019

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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).
Emmanuel Scalais, Ronit Chafai, Rudy Van Coster, Lutz Bindl, Christian Nuttin

Eur J Paediatr Neurol· November 2013

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SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
Elke M Botzenhart, Andrew Green, Helena Ilyina, Rainer König, R Brian Lowry, Ronit Chafai

Hum Mutat· September 2005

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