Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins.

Dokumenttyp:: Journal Article; Article
Autor(en):: Johannsen, Jessika; Hempel, Maja; Diehl, Thilo; Haack, Tobias B; Denecke, Jonas
Titel:: Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins.
Zeitschriftentitel:: Pediatr Neonatol
Jahr:: 2017
Band / Volume:: 58
Heft / Issue:: 5
Seitenangaben Beitrag:: 458-459
Sprache:: eng
Volltext / DOI:: doi:10.1016/j.pedneo.2016.05.007
PubMed:: http://view.ncbi.nlm.nih.gov/pubmed/27989427
Print-ISSN:: 1875-9572
TUM Einrichtung:: Institut für Humangenetik
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