Next generation sequencing technologies in the genetic diagnosis of congenital myasthenic syndrome

Autor:	A. Topf, Y. Azuma, S. Gorokhova, E. O'Connor, A. Porter, E. Harris, T. Evangelista, D. Cox, P. Lorenzoni, G. McMacken, M. Bartoli, D. McArthur, O. Magnusson, A. Abicht, J. Senderek, A. Roos, H. Lochmüller
Rok vydání:	2017
Předmět:	Pediatrics medicine.medical_specialty Neurology business.industry Pediatrics Perinatology and Child Health Medicine Neurology (clinical) Congenital myasthenic syndrome business medicine.disease Genetic diagnosis Genetics (clinical) DNA sequencing
Zdroj:	Neuromuscular Disorders. 27:S196-S197
ISSN:	0960-8966
DOI:	10.1016/j.nmd.2017.06.373
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::9245a23e180ccc6b7c033b5dd6a30f36 https://doi.org/10.1016/j.nmd.2017.06.373 Zobrazit plný text záznamu Full Text from ScienceDirect