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Molecular Genetics and Metabolism|December 14, 2020
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemiaPierre-Hadrien Becker, Zeynep Demir, Yael Mozer Glassberg, et al.Molecular Genetics and Metabolism|February 14, 2018
Long-term liver disease in methylmalonic and propionic acidemiasApolline Imbard, Nuria Garcia Segarra, Marine Tardieu, et al.Journal of Inherited Metabolic Disease|September 20, 2017
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profilesAlice Kuster, Jean-Baptiste Arnoux, Magalie Barth, et al.Human Mutation|May 12, 2011
Clinical and biochemical heterogeneity associated with fumarase deficiencyChris Ottolenghi, Laurence Hubert, Yannick Allanore, et al.Human Mutation|November 5, 2019
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutationsGiulia Barcia, Marlène Rio, Zahra Assouline, et al.Elife|September 14, 2016
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver diseaseVirginia Guarani, Claude Jardel, Dominique Chrétien, et al.American Journal of Human Genetics|August 6, 2013
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemiaPauline Gaignard, Minal Menezes, Manuel Schiff, et al.Plos Genetics|April 5, 2017
Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal healthAmandine Duchesne, Anne Vaiman, Johan Castille, et al.Journal of Medical Genetics|July 13, 2013
Prevalence of rare mitochondrial DNA mutations in mitochondrial disordersSylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, et al.Journal of Medical Genetics|March 15, 2011
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinomaBetty Gardie, Audrey Remenieras, Darouna Kattygnarath, et al.Pageof 5