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Daniela Antuzzi

Showing results (21-30 of 27) with videos related to

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Muscle & Nerve|October 7, 2004
Functional assessment of A delta and C fibers in patients with Fabry's diseaseMassimiliano Valeriani, Paolo Mariotti, Domenica Le Pera, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 25, 2018
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJLorenzo Ferri, Duccio Malesci, Antonella Fioravanti, et al.
Molecular Genetics and Metabolism|February 9, 2021
Morquio B disease: From pathophysiology towards diagnosisAnna Caciotti, Lucrezia Cellai, Rodolfo Tonin, et al.
Human Mutation|March 12, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) allelesFrancesca Bertola, Mirella Filocamo, Giorgio Casati, et al.
Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, 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.
Biochimica Et Biophysica Acta|April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findingsAnna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
Pageof 3

Showing results (21-30 of 27) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 27 results.
Muscle & Nerve|October 7, 2004
Functional assessment of A delta and C fibers in patients with Fabry's diseaseMassimiliano Valeriani, Paolo Mariotti, Domenica Le Pera, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 25, 2018
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJLorenzo Ferri, Duccio Malesci, Antonella Fioravanti, et al.
Molecular Genetics and Metabolism|February 9, 2021
Morquio B disease: From pathophysiology towards diagnosisAnna Caciotti, Lucrezia Cellai, Rodolfo Tonin, et al.
Human Mutation|March 12, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) allelesFrancesca Bertola, Mirella Filocamo, Giorgio Casati, et al.
Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, 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.
Biochimica Et Biophysica Acta|April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findingsAnna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
Pageof 3