Last Posted: Jan 24, 2019
- Genetic testing in a cohort of patients with potential epilepsy with myoclonic-atonic seizures.
Angione Katie et al. Epilepsy research 2019 Jan 15070-77 - Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.
Wempe Michael F et al. Journal of inherited metabolic disease 2019 Jan - Ascertaining the epidemiology, patient flow and disease management for Dravet syndrome in Spain.
Gil-Nagel A et al. Revista de neurologia 2019 Jan 68(2) 75-81 - From next generation sequencing to targeted treatment of non-acquired epilepsies.
Møller Rikke S et al. Expert review of molecular diagnostics 2019 Jan - [Whole Exome Sequencing in daily practice: the possibilities and impossibilities of this diagnostic test].
Bouman Arjan et al. Nederlands tijdschrift voor geneeskunde 2018 162 - Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.
Sánchez Fernández Iván et al. Neurology 2019 Jan - Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions.
Wofford Sara et al. Journal of child neurology 2019 Jan 883073818821036 - An Objective Method for Evaluating Next-Generation Sequencing Panels.
Angione Kaitlin et al. Journal of child neurology 2018 Dec 883073818815036 - Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.
Fujimura Junya et al. Kidney international reports 2019 Jan 4(1) 119-125 - Parents of a child with epilepsy: Views and expectations on receiving genetic results from Whole Genome Sequencing.
Jaitovich Groisman Iris et al. Epilepsy & behavior : E&B 2018 Dec 90178-190
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