Showing results (81-90 of 140) with videos related to

Sort By:
Pageof 14
American Journal of Medical Genetics. Part A|January 19, 2008
Progressive cerebral vascular degeneration with mitochondrial encephalopathyNicola Longo, Iris Schrijver, Hannes Vogel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2013
Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disordersHong Cui, Fangyuan Li, David Chen, et al.
Pediatric Neurology|April 13, 2016
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement DisorderAmitha L Ananth, Amy Robichaux-Viehoever, Young-Min Kim, et al.
Molecular Genetics and Metabolism|October 23, 2012
Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial diseaseFrancis G Blankenberg, Stephen L Kinsman, Bruce H Cohen, et al.
Molecular Genetics and Metabolism|April 16, 2013
Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathiesAnna Pastore, Sara Petrillo, Giulia Tozzi, et al.
The Journal of Pediatrics|December 9, 2008
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolismIsabelle R Miousse, David Watkins, David Coelho, et al.
Pediatrics|October 18, 2006
Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)Joseph T C Shieh, Petra Swidler, John A Martignetti, et al.
European Journal of Human Genetics : EJHG|April 21, 2026
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlationsAlfonso Manuel D'Alessio, Alessia Indrieri, Giuseppina Vitiello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2014
Clinical whole-exome sequencing: are we there yet?Paldeep Singh Atwal, Marie-Louise Brennan, Rachel Cox, et al.
The Journal of Pediatrics|November 1, 2002
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic originsGregory M Enns, Robert D Steiner, Neil Buist, et al.
Pageof 14