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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.
Ebiomedicine
|
March 30, 2019
A genetic modifier of symptom onset in Pompe disease
Atze J Bergsma, Stijn L M In 't Groen, Jan J A van den Dorpel, et al.
Human Mutation
|
December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations
Anna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Biochimica Et Biophysica Acta
|
April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
Anna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
International Journal of Neonatal Screening
|
August 23, 2022
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, et al.
Journal of the Neurological Sciences
|
January 31, 2024
Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry
Ilaria Romani, Cristina Sarti, Patrizia Nencini, et al.
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Showing results (111-120 of 116) with videos related to
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This site can display upto 116 results.
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.
Ebiomedicine
|
March 30, 2019
A genetic modifier of symptom onset in Pompe disease
Atze J Bergsma, Stijn L M In 't Groen, Jan J A van den Dorpel, et al.
Human Mutation
|
December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations
Anna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Biochimica Et Biophysica Acta
|
April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
Anna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
International Journal of Neonatal Screening
|
August 23, 2022
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, et al.
Journal of the Neurological Sciences
|
January 31, 2024
Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry
Ilaria Romani, Cristina Sarti, Patrizia Nencini, et al.
Page
of 12