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Francesca Menni

Showing results (41-50 of 44) with videos related to

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European Journal of Human Genetics : EJHG|July 19, 2023
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathyDario Ronchi, Manuela Garbellini, Francesca Magri, et al.
Annali Italiani Di Medicina Interna : Organo Ufficiale Della Societa Italiana Di Medicina Interna|February 1, 2005
[Fabry disease in Italy: first epidemiologic and collaborative study]Roberta Ricci, Mario Castorina, Mariangela Di Lillo, et al.
Orphanet Journal of Rare Diseases|November 29, 2025
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithmMarco Spada, Serena Gasperini, Massimiliano Filosto, et al.
Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
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Showing results (41-50 of 44) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 44 results.
European Journal of Human Genetics : EJHG|July 19, 2023
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathyDario Ronchi, Manuela Garbellini, Francesca Magri, et al.
Annali Italiani Di Medicina Interna : Organo Ufficiale Della Societa Italiana Di Medicina Interna|February 1, 2005
[Fabry disease in Italy: first epidemiologic and collaborative study]Roberta Ricci, Mario Castorina, Mariangela Di Lillo, et al.
Orphanet Journal of Rare Diseases|November 29, 2025
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithmMarco Spada, Serena Gasperini, Massimiliano Filosto, et al.
Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
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