Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1

Complex neurological phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. WES can be applied to investigate the “diagnostic odyssey” cases. These cases involve patients with rare diseases of likely genetic eti...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
Foilsithe in:Mayo Clin Proc
Main Authors: Tacik, Pawel, Guthrie, Kimberly J., Strongosky, Audrey J., Broderick, Daniel F., Riegert-Johnson, Douglas L., Tang, Sha, El-Khechen, Dima, Parker, Alexander S., Ross, Owen A., Wszolek, Zbigniew K.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2015
Ábhair:
Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4354704/
https://ncbi.nlm.nih.gov/pubmed/25659636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mayocp.2015.01.001
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!

Míreanna Comhchosúla