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1 Ergebnisse
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De Novo Large Deletions in the PHEX Gene Caused X-Linked Hy..:
Pecoraro, Carmine
;
Fioretti, Tiziana
;
Perruno, Assunta
...
Diagnostics. 13 (2023) 15 - p. 2552 , 2023
Link:
https://doi.org/10.3390/diagnostics13152552
RT Journal T1
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab
UL https://suche.suub.uni-bremen.de/peid=cr-10.3390_diagnostics13152552&Exemplar=1&LAN=DE A1 Pecoraro, Carmine A1 Fioretti, Tiziana A1 Perruno, Assunta A1 Klain, Antonella A1 Cioffi, Daniela A1 Ambrosio, Adelaide A1 Passaro, Diego A1 Annicchiarico Petruzzelli, Luigi A1 Di Domenico, Carmela A1 de Girolamo, Domenico A1 Vallone, Sabrina A1 Cattaneo, Fabio A1 Ammendola, Rosario A1 Esposito, Gabriella PB MDPI AG YR 2023 SN 2075-4418 JF Diagnostics VO 13 IS 15 SP 2552 LK http://dx.doi.org/https://doi.org/10.3390/diagnostics13152552 DO https://doi.org/10.3390/diagnostics13152552 SF ELIB - SuUB Bremen
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