E-LIB Suche - Ergebnisse für: Stroppiano, Marina

1

Predicting the probability of Gaucher disease in subjects w..:

Motta, Irene ; Consonni, Dario ; Stroppiano, Marina...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

2

A multicentre observational study for early diagnosis of Ga..:

Motta, Irene ; Filocamo, Mirella ; Poggiali, Erika...
European Journal of Haematology. 96 (2015) 4 - p. 352-359 , 2015

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

3

Glucocerebrosidase deficiency in zebrafish affects primary ..:

Zancan, Ilaria ; Bellesso, Stefania ; Costa, Roberto...
Human Molecular Genetics. 24 (2014) 5 - p. 1280-1294 , 2014

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

4

Validity of β-d-glucosidase activity measured in dried bloo..:

Stroppiano, Marina ; Calevo, Maria Grazia ; Corsolini, Fabio...
Clinical Biochemistry. 47 (2014) 13-14 - p. 1293-1296 , 2014

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

5

A novel homozygous splicing mutation in PSAP gene causes me..:

Siri, Laura ; Rossi, Andrea ; Lanza, Federica...
neurogenetics. 15 (2014) 2 - p. 101-106 , 2014

Link: https://doi.org/10.1007/..

6

Molecular and functional analysis of the HEXB gene in Itali..:

Zampieri, Stefania ; Filocamo, Mirella ; Buratti, Emanuele...
neurogenetics. 10 (2008) 1 - p. , 2008

Link: https://doi.org/10.1007/..

7

Identification of nine new IDS alleles in mucopolysaccharid..:

Lualdi, Susanna ; Di Rocco, Maja ; Corsolini, Fabio...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1762 (2006) 4 - p. 478-484 , 2006

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

8

Homozygosity for a non-pseudogene complex glucocerebrosidas..:

Filocamo, Mirella ; Grossi, Serena ; Stroppiano, Marina...
American Journal of Medical Genetics Part A. 134A (2005) 1 - p. 95-96 , 2005

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

9

First-trimester fetal nuchal translucency and inherited met..:

De Biasio, Pierangela ; Prefumo, Federico ; Casagrande, Valentina...
Prenatal Diagnosis. 26 (2005) 1 - p. 77-80 , 2005

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

10

Early Visual Seizures and Progressive Myoclonus Epilepsy in..:

Filocamo, Mirella ; Mazzotti, Raffaella ; Stroppiano, Marina...
Epilepsia. 45 (2004) 9 - p. 1154-1157 , 2004

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

11

Expression studies of two novel in CIS‐mutations identified..:

Ricci, Verena ; Filocamo, Mirella ; Regis, Stefano...
American Journal of Medical Genetics Part A. 120A (2003) 1 - p. 84-87 , 2003

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

12

Contribution of arylsulfatase A mutations located on the sa..:

Regis, Stefano ; Corsolini, Fabio ; Stroppiano, Marina..
Human Genetics. 110 (2002) 4 - p. 351-355 , 2002

Link: https://doi.org/10.1007/..

13

Prenatal diagnosis of Pelizaeus‐Merzbacher disease: detecti..:

Regis, Stefano ; Filocamo, Mirella ; Mazzotti, Raffaella...
Prenatal Diagnosis. 21 (2001) 8 - p. 668-671 , 2001

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

14

Aberrant splicing at catalytic site as cause of infantile o..:

Stroppiano, Marina ; Bonuccelli, Gloria ; Corsolini, Fabio.
American Journal of Medical Genetics. 101 (2001) 1 - p. 55-58 , 2001

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

15

Evidence for a Founder Effect in Sicilian Patients with Gly..:

Dagnino, Fabio ; Stroppiano, Marina ; Regis, Stefano..
Human Heredity. 50 (2000) 6 - p. 331-333 , 2000

Link: https://doi.org/10.1159/..