| Naslov: | Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy |
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| Avtorji: | ID Chamieh, Sarah (Avtor)
ID Marzin, Pauline (Avtor)
ID Achard, Sophie (Avtor)
ID Blanc, Pierre (Avtor)
ID Jonard, Laurence (Avtor)
ID Battelino, Saba (Avtor)
ID Trebušak Podkrajšek, Katarina (Avtor)
ID Serey-Gaut, Margaux (Avtor)
ID Marlin, Sandrine (Avtor) |
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| Datoteke: |  PDF - Predstavitvena datoteka, prenos (6,21 MB)
MD5: B6A421C5E1E10F2EA5E5C141158C4974
 URL - Izvorni URL, za dostop obiščite https://www.sciencedirect.com/science/article/pii/S1769721226000248?via%3Dihub
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| Jezik: | Angleški jezik |
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| Tipologija: | 1.03 - Drugi znanstveni članki |
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| Organizacija: |  UKC LJ - Univerzitetni klinični center Ljubljana
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| Povzetek: | The gold standard recommendation for congenital sensorineural hearing loss (SNHL) care is cochlear implantation (CI). Adjusting for confounding factors such as developmental comorbidities is crucial when assessing expected outcomes of the procedure for the patients, their families, and their medical teams. We describe two clinical cases of the deafness and onychodystrophy (DOD) spectrum and the benefit of molecular diagnosis to underline the importance of genetic testing when evaluating potential CI outcomes in syndromic congenital SNHL. |
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| Ključne besede: | ATP6V1B2, cochlear implantation, DOD, disorders of development, sensorineural hearing loss, syndromic hearing loss, Zimmerman-Laband syndrome |
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| Status publikacije: | Objavljeno |
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| Verzija publikacije: | Objavljena publikacija |
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| Leto izida: | 2026 |
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| Št. strani: | str. 1-8 |
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| Številčenje: | Vol. 82, no. [article no.] 105090 |
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| PID: | 20.500.12556/DiRROS-31706  |
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| UDK: | 616.21 |
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| ISSN pri članku: | 1878-0849 |
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| DOI: | 10.1016/j.ejmg.2026.105090 |
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| COBISS.SI-ID: | 285043459 |
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| Opomba: | Nasl. z nasl. zaslona;
Opis vira z dne 16. 7. 2026;
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| Datum objave v DiRROS: | 06.08.2026 |
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| Število ogledov: | 108 |
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| Število prenosov: | 148 |
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| Metapodatki: |    |
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