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1 Ergebnisse
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Diagnostic Odyssey in an Adult Patient with Ophthalmologic ..:
Muñoz-Pujol, Gerard
;
Alforja-Castiella, Socorro
;
Casaroli-Marano, Ricardo
...
International Journal of Molecular Sciences. 23 (2022) 20 - p. 12367 , 2022
Link:
https://doi.org/10.3390/ijms232012367
RT Journal T1
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency
UL https://suche.suub.uni-bremen.de/peid=cr-10.3390_ijms232012367&Exemplar=1&LAN=DE A1 Muñoz-Pujol, Gerard A1 Alforja-Castiella, Socorro A1 Casaroli-Marano, Ricardo A1 Morales-Romero, Blai A1 García-Villoria, Judit A1 Yépez, Vicente A. A1 Gagneur, Julien A1 Gusic, Mirjana A1 Prokisch, Holger A1 Tort, Frederic A1 Ribes, Antonia PB MDPI AG YR 2022 SN 1422-0067 JF International Journal of Molecular Sciences VO 23 IS 20 SP 12367 LK http://dx.doi.org/https://doi.org/10.3390/ijms232012367 DO https://doi.org/10.3390/ijms232012367 SF ELIB - SuUB Bremen
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