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Diagnostic odyssey in an adult patient with ophthalmologic ..:
Muñoz-Pujol, Gerard
;
Alforja, Socorro
;
Casaroli Marano, Ricardo Pedro
...
Reproducció del document publicat a: https://doi.org/10.3390/ijms232012367. , 2022
Link:
http://hdl.handle.net/2445/194589
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=base-ftubarcepubl:oai:diposit.ub.edu:2445_194589&Exemplar=1&LAN=DE A1 Muñoz-Pujol, Gerard A1 Alforja, Socorro A1 Casaroli Marano, Ricardo Pedro 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 Rubió, Maria Antònia PB MDPI YR 2022 K1 Malalties hereditàries K1 Peroxisomes K1 Edema K1 Oftalmologia K1 Trastorns auditius K1 Trastorns del metabolisme K1 Errors congènits del metabolisme K1 Genetic diseases K1 Ophthalmology K1 Hearing disorders K1 Disorders of metabolism K1 Inborn errors of metabolism JF Reproducció del document publicat a: https://doi.org/10.3390/ijms232012367 LK http://hdl.handle.net/2445/194589 DO http://hdl.handle.net/2445/194589 SF ELIB - SuUB Bremen
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