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Daniel Rabier

Showing results (31-40 of 34) with videos related to

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Orphanet Journal of Rare Diseases|October 7, 2010
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case reportAnne-Frédérique Dessein, Monique Fontaine, Brage S Andresen, et al.
Pediatrics|June 29, 2011
Mevalonate kinase deficiency: a survey of 50 patientsBrigitte Bader-Meunier, Benoit Florkin, Jean Sibilia, et al.
Human Mutation|May 12, 2011
Clinical and biochemical heterogeneity associated with fumarase deficiencyChris Ottolenghi, Laurence Hubert, Yannick Allanore, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|December 18, 2013
Serum 2-hydroxyglutarate production in IDH1- and IDH2-mutated de novo acute myeloid leukemia: a study by the Acute Leukemia French Association groupMaxime Janin, Elena Mylonas, Véronique Saada, et al.
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Showing results (31-40 of 34) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 34 results.
Orphanet Journal of Rare Diseases|October 7, 2010
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case reportAnne-Frédérique Dessein, Monique Fontaine, Brage S Andresen, et al.
Pediatrics|June 29, 2011
Mevalonate kinase deficiency: a survey of 50 patientsBrigitte Bader-Meunier, Benoit Florkin, Jean Sibilia, et al.
Human Mutation|May 12, 2011
Clinical and biochemical heterogeneity associated with fumarase deficiencyChris Ottolenghi, Laurence Hubert, Yannick Allanore, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|December 18, 2013
Serum 2-hydroxyglutarate production in IDH1- and IDH2-mutated de novo acute myeloid leukemia: a study by the Acute Leukemia French Association groupMaxime Janin, Elena Mylonas, Véronique Saada, et al.
Pageof 4