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American Journal of Medical Genetics|July 23, 1998
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2V Cormier-Daire, A Superti-Furga, A Munnich, et al.Molecular Genetics and Metabolism|November 3, 2005
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvementA Slama, I Giurgea, D Debrey, et al.Journal of Medical Entomology|September 2, 2023
Invasive Haemaphysalis longicornis (Acari: Ixodidae) investigation in South Carolina: new records of establishment, pathogen prevalence, and blood meal analysesKyndall C Dye-Braumuller, Lídia Gual-Gonzalez, Titi Abiodun, et al.European Journal of Pediatrics|February 9, 1999
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemiaB Parfait, P de Lonlay, J C von Kleist-Retzow, et al.Journal of Hepatology|September 1, 1995
Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiencyI Goncalves, D Hermans, D Chretien, et al.Prenatal Diagnosis|October 4, 2000
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiencyL Faivre, V Cormier-Daire, D Chrétien, et al.Journal of Medical Genetics|December 20, 2003
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiencyS Lebon, M Chol, P Benit, et al.British Journal of Cancer|October 27, 2004
Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastomaD Astuti, M Morris, C Krona, et al.Cell Death and Differentiation|March 1, 2008
The molecular archaeology of a mitochondrial death effector: AIF in DrosophilaN Joza, K Galindo, J A Pospisilik, et al.Molecular Biology of the Cell|May 4, 2000
Branched chain amino acids induce apoptosis in neural cells without mitochondrial membrane depolarization or cytochrome c release: implications for neurological impairment associated with maple syrup urine diseaseP Jouvet, P Rustin, D L Taylor, et al.Pageof 18