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1.
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.
Genet Med
; 20(12): 1600-1608, 2018 12.
Article
in English
| MEDLINE | ID: mdl-29595809
2.
Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
J Mol Diagn
; 26(3): 191-201, 2024 03.
Article
in English
| MEDLINE | ID: mdl-38103590
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