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Biomedicines|August 27, 2021
A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein MaturationElise Lebigot, Manuel Schiff, Marie-Pierre Golinelli-CohenJournal of Human Genetics|March 10, 2017
UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemiaPauline Gaignard, Didier Eyer, Elise Lebigot, et al.American Journal of Medical Genetics. Part A|February 8, 2025
Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh SyndromePauline Gaignard, Pierre-Hadrien Becker, Anne-Frederique Dessein, et al.Journal of Inherited Metabolic Disease|January 21, 2015
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patientsElise Lebigot, Anaïs Brassier, Mokhtar Zater, et al.Annales De Biologie Clinique|July 29, 2017
Troponin elevation in other conditions than acute coronary syndromesWafa Masri, Edouard Le Guillou, Eya Hamdi, et al.Current Neuropharmacology|October 22, 2019
Human Dermal Fibroblast: A Promising Cellular Model to Study Biological Mechanisms of Major Depression and Antidepressant Drug ResponsePierre Mesdom, Romain Colle, Elise Lebigot, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|February 18, 2022
Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1Merve Emecen Sanli, Basak Cengiz, Ayse Kilic, et al.BMC Pediatrics|February 22, 2025
Dihydrolipoamide dehydrogenase deficiency in two unrelated Tunisian childrenHajer Aloulou, Fatma Charfi, Rim Charfi, et al.European Journal of Endocrinology|April 8, 2024
A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistanceMargaux Laulhé, Emmanuelle Kuhn, Jérôme Bouligand, et al.Molecular Genetics and Metabolism|September 16, 2020
Mitochondrial dysfunction caused by novel ATAD3A mutationsNathalie Dorison, Pauline Gaignard, Aurélien Bayot, et al.Pageof 3