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International Journal of Molecular Sciences
|
January 25, 2018
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature
Catia Cavicchi, Chiara Chilleri, Antonella Fioravanti, et al.
Thescientificworldjournal
|
December 3, 2013
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies
Serena Catarzi, Anna Caciotti, Janita Thusberg, et al.
Molecular Genetics and Metabolism
|
June 13, 2021
A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease
Valeria Bertani, Simona Prioni, Rosanna Di Lecce, et al.
ACS Applied Materials & Interfaces
|
May 3, 2021
Carbon Nanotubes/Regenerated Silk Composite as a Three-Dimensional Printable Bio-Adhesive Ink with Self-Powering Properties
Silvia Bittolo Bon, Irene Chiesa, Micaela Degli Esposti, 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 treatment
Catia Cavicchi, Maria Donati, Rossella Parini, et al.
Clinical Parkinsonism & Related Disorders
|
July 17, 2025
<i>GBA</i> genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany region
Rodolfo Tonin, Silvia Ramat, Marina Rinaldi, et al.
ACS Omega
|
December 12, 2022
Biocompatible and Printable Ionotronic Sensing Materials Based on Silk Fibroin and Soluble Plant-Derived Polyphenols
Irene Chiesa, Carmelo De Maria, Rodolfo Tonin, et al.
BBA Clinical
|
April 7, 2016
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation
Rodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
Molecular Genetics & Genomic Medicine
|
August 12, 2020
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience
Rita Fischetto, Valentina Palladino, Maria M Mancardi, et al.
Clinical Chemistry and Laboratory Medicine
|
April 29, 2021
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients
Sabrina Malvagia, Lorenzo Ferri, Maria Della Bona, et al.
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Search research articles
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Showing results (91-100 of 116) with videos related to
Sort By:
Page
of 12
International Journal of Molecular Sciences
|
January 25, 2018
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature
Catia Cavicchi, Chiara Chilleri, Antonella Fioravanti, et al.
Thescientificworldjournal
|
December 3, 2013
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies
Serena Catarzi, Anna Caciotti, Janita Thusberg, et al.
Molecular Genetics and Metabolism
|
June 13, 2021
A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease
Valeria Bertani, Simona Prioni, Rosanna Di Lecce, et al.
ACS Applied Materials & Interfaces
|
May 3, 2021
Carbon Nanotubes/Regenerated Silk Composite as a Three-Dimensional Printable Bio-Adhesive Ink with Self-Powering Properties
Silvia Bittolo Bon, Irene Chiesa, Micaela Degli Esposti, 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 treatment
Catia Cavicchi, Maria Donati, Rossella Parini, et al.
Clinical Parkinsonism & Related Disorders
|
July 17, 2025
<i>GBA</i> genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany region
Rodolfo Tonin, Silvia Ramat, Marina Rinaldi, et al.
ACS Omega
|
December 12, 2022
Biocompatible and Printable Ionotronic Sensing Materials Based on Silk Fibroin and Soluble Plant-Derived Polyphenols
Irene Chiesa, Carmelo De Maria, Rodolfo Tonin, et al.
BBA Clinical
|
April 7, 2016
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation
Rodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
Molecular Genetics & Genomic Medicine
|
August 12, 2020
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience
Rita Fischetto, Valentina Palladino, Maria M Mancardi, et al.
Clinical Chemistry and Laboratory Medicine
|
April 29, 2021
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients
Sabrina Malvagia, Lorenzo Ferri, Maria Della Bona, et al.
Page
of 12