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1.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proc Natl Acad Sci U S A
; 117(26): 15137-15147, 2020 06 30.
Article
in English
| MEDLINE | ID: mdl-32554502
2.
[Verification results of objective newborn hearing screening]. / Az újszülöttkori objektív hallásszurés utánvizsgálatának eredményei.
Orv Hetil
; 160(47): 1850-1855, 2019 Nov.
Article
in Hungarian
| MEDLINE | ID: mdl-31736348
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