E-LIB Suche - Ergebnisse für: Consoli, Federica

1

A novel ANO3 variant in two siblings with different phenoty..:

Esposito, Marcello ; Trinchillo, Assunta ; Piceci-Sparascio, Francesca...
Parkinsonism & Related Disorders. 111 (2023) - p. 105413 , 2023

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

2

Clinical variability in DYNC2H1-related skeletal ciliopathi..:

Piceci-Sparascio, Francesca ; Micale, Lucia ; Torres, Barbara...
European Journal of Human Genetics. 31 (2023) 4 - p. 479-484 , 2023

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

3

A Novel Triplet-Primed PCR Assay to Detect the Full Range o..:

De Luca, Alessandro ; Morella, Annunziata ; Consoli, Federica...
International Journal of Molecular Sciences. 22 (2021) 4 - p. 1689 , 2021

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

4

Generation of induced pluripotent stem cell line CSSi008-A ..:

Bidollari, Eris ; Rotundo, Giovannina ; Altieri, Filomena...
Stem Cell Research. 40 (2019) - p. 101551 , 2019

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

5

Generation of induced pluripotent stem cell line, CSSi002-A..:

Rosati, Jessica ; Bidollari, Eris ; Rotundo, Giovannina...
Stem Cell Research. 27 (2018) - p. 86-89 , 2018

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

6

Generation of the induced pluripotent stem cell line CSSi00..:

Rotundo, Giovannina ; Bidollari, Eris ; Ferrari, Daniela...
Stem Cell Research. 29 (2018) - p. 174-178 , 2018

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

7

Paroxysmal Dyskinesias in a PRRT2 MutationCarrier:

Marano, Massimo ; Motolese, Francesco ; Consoli, Federica..
Tremor and Other Hyperkinetic Movements. 8 (2018) 0 - p. 616 , 2018

Link: https://doi.org/10.5334/..

8

Generation of induced pluripotent stem cell line, CSSi004-A..:

Bidollari, Eris ; Rotundo, Giovannina ; Ferrari, Daniela...
Stem Cell Research. 28 (2018) - p. 145-148 , 2018

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

9

Lack of pathogenic mutations in SOS1 gene in phenytoin-indu..:

Margiotti, Katia ; Pascolini, Giulia ; Consoli, Federica...
Archives of Oral Biology. 80 (2017) - p. 160-163 , 2017

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

10

Novel and recurrent EVC and EVC2 mutations in Ellis-van Cre..:

D'Asdia, Maria Cecilia ; Torrente, Isabella ; Consoli, Federica...
European Journal of Medical Genetics. 56 (2013) 2 - p. 80-87 , 2013

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

11

Alpha-synuclein gene duplication: Marked intrafamilial vari..:

Elia, Antonio E. ; Petrucci, Simona ; Fasano, Alfonso...
Movement Disorders. 28 (2013) 6 - p. 813-817 , 2013

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

12

Congenital heart defects in recurrent reciprocal 1q21.1 del..:

Digilio, M. Cristina ; Bernardini, Laura ; Consoli, Federica...
European Journal of Medical Genetics. 56 (2013) 3 - p. 144-149 , 2013

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

13

Loss of CBL E3‐ligase activity in B‐lineage childhood acute..:

Martinelli, Simone ; Checquolo, Saula ; Consoli, Federica...
British Journal of Haematology. 159 (2012) 1 - p. 115-119 , 2012

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

14

Search of somatic GATA4 and NKX2.5 gene mutations in sporad..:

Salazar, Marleny ; Consoli, Federica ; Villegas, Victoria...
European Journal of Medical Genetics. 54 (2011) 3 - p. 306-309 , 2011

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

15

Heterozygous germline mutations in the CBL tumor-suppressor..:

, In: American journal of human genetics / American Society of Human Genetics

Martinelli, Simone ; De Luca, Alessandro ; Stellacci, Emilia.... (2010) 2 - p. 250-257

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