Author/Editor     Taylor, Rachel L.; Parry, Neil R.A.; Barton, Stephanie J.; Campbell, Christopher; Delaney, Claire M.; Ellingford, Jamie M; Hall, Georgina; Hardcastle, Claire; Morarji, Jiten; Sergouniotis, Panagiotis I.
Title     Panel-based clinical genetic testing in 85 children with inherited retinal disease
Type     članek
Vol. and No.     Letnik 124, št. 7
Publication year     2017
Volume     str. 985-991
ISSN     0161-6420 - Ophthalmology
Language     eng
Keywords     inherited retinal disease
phenotype ontology
panel-based clinical genetic testing
dedna bolezen mrežnice
fenotipska ontologija
panelno klinično genetsko testiranje