E-LIB Suche - Ergebnisse für: Zampieri, Stefania

1

Clenching the Strings of Bruxism Etiopathogenesis: Associat..:

Pecori, Alessandro ; Luppieri, Valentina ; Santin, Aurora...
Biomedicines. 12 (2024) 2 - p. 304 , 2024

Link: https://doi.org/10.3390/..

2

Thrombocytopenia 4 (THC4): Six novel families with mutation..:

Marzollo, Antonio ; Zampieri, Stefania ; Barozzi, Serena...
British Journal of Haematology. , 2024

Link: https://doi.org/10.1111/..

3

Plasma Neurofilament Light (NfL) in Patients Affected by Ni..:

Dardis, Andrea ; Pavan, Eleonora ; Fabris, Martina...
Journal of Clinical Medicine. 10 (2021) 20 - p. 4796 , 2021

Link: https://doi.org/10.3390/..

4

Expression of the tumor-expressed protein MageB2 enhances r..:

Ladelfa, María Fátima ; Peche, Leticia Yamila ; Amato, Gastón Ezequiel...
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1868 (2021) 7 - p. 119015 , 2021

Link: https://doi.org/10.1016/..

5

Accurate Molecular Diagnosis of Gaucher Disease Using Clini..:

Zampieri, Stefania ; Cattarossi, Silvia ; Pavan, Eleonora...
International Journal of Molecular Sciences. 22 (2021) 11 - p. 5538 , 2021

Link: https://doi.org/10.3390/..

6

A Streamlined Approach to Rapidly Detect SARS-CoV-2 Infecti..:

Mio, Catia ; Cifù, Adriana ; Marzinotto, Stefania...
Disease Markers. 2020 (2020) - p. 1-5 , 2020

Link: https://doi.org/10.1155/..

7

Molecular Genetics of Niemann–Pick Type C Disease in Italy:..:

Dardis, Andrea ; Zampieri, Stefania ; Gellera, Cinzia...
Journal of Clinical Medicine. 9 (2020) 3 - p. 679 , 2020

Link: https://doi.org/10.3390/..

8

Early biochemical effects of velmanase alfa in a 7‐month‐ol..:

Santoro, Lucia ; Zampini, Lucia ; Padella, Lucia...
JIMD Reports. 55 (2020) 1 - p. 15-21 , 2020

Link: https://doi.org/10.1002/..

9

Mechanistic convergence and shared therapeutic targets in N..:

Colaco, Alexandria ; Kaya, Ecem ; Adriaenssens, Elias...
Journal of Inherited Metabolic Disease. 43 (2019) 3 - p. 574-585 , 2019

Link: https://doi.org/10.1002/..

10

Mesomelia‐synostoses syndrome: Description of a patient pre..:

Dardis, Andrea ; Pianta, Annalisa ; Zampieri, Stefania...
Clinical Genetics. 95 (2018) 2 - p. 336-338 , 2018

Link: https://doi.org/10.1111/..

11

Histone acetylation as a new mechanism for bilirubin-induce..:

Vianello, Eleonora ; Zampieri, Stefania ; Marcuzzo, Thomas...
Scientific Reports. 8 (2018) 1 - p. , 2018

Link: https://doi.org/10.1038/..

12

Shortened primary cilium length and dysregulated Sonic hedg..:

Canterini, Sonia ; Dragotto, Jessica ; Dardis, Andrea...
Human Molecular Genetics. 26 (2017) 12 - p. 2277-2289 , 2017

Link: https://doi.org/10.1093/..

13

Cerebrospinal fluid β‐glucocerebrosidase activity is reduce..:

Parnetti, Lucilla ; Paciotti, Silvia ; Eusebi, Paolo...
Movement Disorders. 32 (2017) 10 - p. 1423-1431 , 2017

Link: https://doi.org/10.1002/..

14

Comprehensive Evaluation of Plasma 7-Ketocholesterol and Ch..:

Romanello, Milena ; Zampieri, Stefania ; Bortolotti, Nadia...
Clinica Chimica Acta. 455 (2016) - p. 39-45 , 2016

Link: https://doi.org/10.1016/..

15

SMPD1 Mutation Update: Database and Comprehensive Analysis ..:

Zampieri, Stefania ; Filocamo, Mirella ; Pianta, Annalisa...
Human Mutation. 37 (2015) 2 - p. 139-147 , 2015

Link: https://doi.org/10.1002/..