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Miriam Rigoldi

Showing results (11-20 of 35) with videos related to

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The Journal of Pediatrics|February 3, 2015
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian studyDaniela Melis, Mariarosaria Cozzolino, Giorgia Minopoli, et al.
International Journal of Molecular Sciences|March 7, 2019
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16Serena Redaelli, Silvia Maitz, Francesca Crosti, et al.
Frontiers in Immunology|February 16, 2023
<i>CFH</i> and <i>CFHR</i> structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcomeRossella Piras, Elisabetta Valoti, Marta Alberti, et al.
JIMD Reports|February 23, 2013
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose IntoleranceLorenzo Ferri, Anna Caciotti, Catia Cavicchi, et al.
Clinical Dysmorphology|October 4, 2023
Long-term outcome of a cohort of Italian patients affected with alpha-MannosidosisAnna Bertolini, Miriam Rigoldi, Annalia Cianflone, et al.
BMC Medical Genetics|October 12, 2018
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a diseaseAnna Caciotti, Rodolfo Tonin, Matthew Mort, et al.
Journal of Inherited Metabolic Disease|July 2, 2019
Chronic liver involvement in urea cycle disordersGiusy Ranucci, Miriam Rigoldi, Giovanna Cotugno, et al.
Journal of Inherited Metabolic Disease|September 15, 2010
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type IIBruno Bembi, Federica Edith Pisa, Marco Confalonieri, et al.
Molecular Genetics and Metabolism|February 9, 2021
Morquio B disease: From pathophysiology towards diagnosisAnna Caciotti, Lucrezia Cellai, Rodolfo Tonin, et al.
Orphanet Journal of Rare Diseases|July 17, 2014
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatmentCatia Cavicchi, Maria Donati, Rossella Parini, et al.
Pageof 4

Showing results (11-20 of 35) with videos related to

Sort By:
Pageof 4
The Journal of Pediatrics|February 3, 2015
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian studyDaniela Melis, Mariarosaria Cozzolino, Giorgia Minopoli, et al.
International Journal of Molecular Sciences|March 7, 2019
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16Serena Redaelli, Silvia Maitz, Francesca Crosti, et al.
Frontiers in Immunology|February 16, 2023
<i>CFH</i> and <i>CFHR</i> structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcomeRossella Piras, Elisabetta Valoti, Marta Alberti, et al.
JIMD Reports|February 23, 2013
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose IntoleranceLorenzo Ferri, Anna Caciotti, Catia Cavicchi, et al.
Clinical Dysmorphology|October 4, 2023
Long-term outcome of a cohort of Italian patients affected with alpha-MannosidosisAnna Bertolini, Miriam Rigoldi, Annalia Cianflone, et al.
BMC Medical Genetics|October 12, 2018
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a diseaseAnna Caciotti, Rodolfo Tonin, Matthew Mort, et al.
Journal of Inherited Metabolic Disease|July 2, 2019
Chronic liver involvement in urea cycle disordersGiusy Ranucci, Miriam Rigoldi, Giovanna Cotugno, et al.
Journal of Inherited Metabolic Disease|September 15, 2010
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type IIBruno Bembi, Federica Edith Pisa, Marco Confalonieri, et al.
Molecular Genetics and Metabolism|February 9, 2021
Morquio B disease: From pathophysiology towards diagnosisAnna Caciotti, Lucrezia Cellai, Rodolfo Tonin, et al.
Orphanet Journal of Rare Diseases|July 17, 2014
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatmentCatia Cavicchi, Maria Donati, Rossella Parini, et al.
Pageof 4