E-LIB Suche - Ergebnisse für: Cavalieri, Simona

1

In vitro dexamethasone treatment does not induce alternativ..:

Pozzi, Elisa ; Giorgio, Elisa ; Mancini, Cecilia...
Scientific Reports. 10 (2020) 1 - p. , 2020

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

2

Mice harbouring a SCA28 patient mutation in AFG3L2 develop ..:

Mancini, Cecilia ; Hoxha, Eriola ; Iommarini, Luisa...
Neurobiology of Disease. 124 (2019) - p. 14-28 , 2019

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

3

A case of Feingold type 2 syndrome associated with keratoco..:

Sirchia, Fabio ; Di Gregorio, Eleonora ; Restagno, Gabriella...
European Journal of Medical Genetics. 60 (2017) 4 - p. 224-227 , 2017

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

4

Exome sequencing in children of women with skewed X-inactiv..:

Giorgio, Elisa ; Brussino, Alessandro ; Biamino, Elisa...
European Journal of Paediatric Neurology. 21 (2017) 3 - p. 475-484 , 2017

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

5

Whole exome sequencing is necessary to clarify ID/DD cases ..:

Giorgio, Elisa ; Ciolfi, Andrea ; Biamino, Elisa...
American Journal of Medical Genetics Part A. 170 (2016) 7 - p. 1772-1779 , 2016

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

6

Long-term treatment with thiamine as possible medical thera..:

Costantini, Antonio ; Laureti, Tiziana ; Pala, Maria Immacolata...
Journal of Neurology. 263 (2016) 11 - p. 2170-2178 , 2016

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

7

Cover Image, Volume 170A, Number 7, July 2016:

Giorgio, Elisa ; Ciolfi, Andrea ; Biamino, Elisa...
American Journal of Medical Genetics Part A. 170 (2016) 7 - p. , 2016

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

8

A novel 3q29 deletion associated with autism, intellectual ..:

Biamino, Elisa ; Di Gregorio, Eleonora ; Belligni, Elga Fabia...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 171 (2015) 2 - p. 290-299 , 2015

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

9

Two families with novel missense mutations in COL4A1: When ..:

Giorgio, Elisa ; Vaula, Giovanna ; Bosco, Giovanni...
Journal of the Neurological Sciences. 352 (2015) 1-2 - p. 99-104 , 2015

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

10

An atypical form of AOA2 with myoclonus associated with mut..:

Mancini, Cecilia ; Orsi, Laura ; Guo, Yiran...
BMC Medical Genetics. 16 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

11

Blood metal levels and related antioxidant enzyme activitie..:

Squadrone, Stefania ; Brizio, Paola ; Mancini, Cecilia...
Neurobiology of Disease. 81 (2015) - p. 162-167 , 2015

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

12

Adult-onset autosomal recessive ataxia associated with neur..:

Mancini, Cecilia ; Nassani, Stefano ; Guo, Yiran...
Journal of Neurology. 262 (2014) 1 - p. 173-178 , 2014

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

13

Large cryptic genomic rearrangements with apparently normal..:

Di Gregorio, Eleonora ; Savin, Elisa ; Biamino, Elisa...
Molecular Cytogenetics. 7 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..

14

SETX mutations are a frequent genetic cause of juvenile and..:

Nanetti, Lorenzo ; Cavalieri, Simona ; Pensato, Viviana...
Orphanet Journal of Rare Diseases. 8 (2013) 1 - p. , 2013

Link: https://doi.org/10.1186/..

15

Megalencephalic leukoencephalopathy with subcortical cysts ..:

Mancini, Cecilia ; Vaula, Giovanna ; Scalzitti, Laura...
neurogenetics. 13 (2012) 3 - p. 205-214 , 2012

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