Last Posted: Dec 20, 2018
- Overcoming bioethical, legal, and hereditary barriers to mitochondrial replacement therapy in the USA.
Pompei Marybeth et al. Journal of assisted reproduction and genetics 2018 Dec - Gene Editing: A View Through the Prism of Inherited Metabolic Disorders.
Davison James et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2018 Apr 24(1) 2-8 - Autosomal-recessive cerebellar ataxias.
Fogel Brent L et al. Handbook of clinical neurology 2018 147187-209 - Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Ogawa Erika et al. Journal of inherited metabolic disease 2017 40(5) 685-693 - Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Puusepp Sanna et al. Molecular genetics and metabolism reports 2018 Jun 1580-89 - Mitochondrial DNA transcription and translation: clinical syndromes.
Boczonadi Veronika et al. Essays in biochemistry 2018 Jul - Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
Nambot S et al. Clinical genetics 2017 Aug 92(2) 188-198 - Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON).
Martins Fábio Tadeu Arrojo et al. Molecular vision 2017 23495-503 - Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
Plutino Morgane et al. BMC medical genetics 2018 Apr 19(1) 57 - Mitochondrial diseases.
Davis Ryan L et al. Handbook of clinical neurology 2018 147125-141
No hay comentarios:
Publicar un comentario