E-LIB Suche - Ergebnisse für: Bottega, Roberta

1

ACTN1‐related thrombocytopenia: Homozygosity for an ACTN1 v..:

Zanchetta, Melania Eva ; Barozzi, Serena ; Isidori, Federica...
British Journal of Haematology. 204 (2024) 6 - p. 2453-2457 , 2024

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

2

Phenotype reversion as "natural gene therapy" in Fanconi an..:

Persico, Ilaria ; Fiscarelli, Ilaria ; Pelle, Alessandra...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

A novel mutation in MECOM affects MPL regulation in vitro a..:

Ammeti, Daniele ; Marzollo, Antonio ; Gabelli, Maria...
British Journal of Haematology. 203 (2023) 5 - p. 852-859 , 2023

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

4

A self-repair history: compensatory effect of a de novo var..:

Persico, Ilaria ; Fontana, Giorgia ; Faleschini, Michela...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

5

Things come in threes: A new complex allele and a novel del..:

Persico, Ilaria ; Feresin, Agnese ; Faleschini, Michela...
Molecular Genetics & Genomic Medicine. 10 (2022) 6 - p. , 2022

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

6

ETV6-related thrombocytopenia: dominant negative effect of ..:

Faleschini, Michela ; Ammeti, Daniele ; Papa, Nicole...
Haematologica. 107 (2022) 9 - p. 2249-2254 , 2022

Link: https://doi.org/10.3324/..

7

Exome sequencing in 116 patients with inherited thrombocyto..:

Marconi, Caterina ; Pecci, Alessandro ; Palombo, Flavia...
Haematologica. 108 (2022) 7 - p. 1909-1919 , 2022

Link: https://doi.org/10.3324/..

8

Genomic integrity and mitochondrial metabolism defects in W..:

Bottega, Roberta ; Ravera, Silvia ; Napolitano, Luisa M. R....
Journal of Cellular Physiology. 236 (2021) 8 - p. 5664-5675 , 2021

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

9

GNE-related thrombocytopenia: evidence for a mutational hot..:

Bottega, Roberta ; Marzollo, Antonio ; Marinoni, Maddalena...
Haematologica. 107 (2021) 3 - p. 750-754 , 2021

Link: https://doi.org/10.3324/..

10

Anti-inflammatory properties of a proprietary bromelain ext..:

Bottega, Roberta ; Persico, Ilaria ; De Seta, Francesco..
International Journal of Immunopathology and Pharmacology. 35 (2021) - p. 205873842110346 , 2021

Link: https://doi.org/10.1177/..

11

Dysregulation of oncogenic factors by GFI1B p32: investigat..:

Faleschini, Michela ; Papa, Nicole ; Morel-Kopp, Marie-Christine...
Haematologica. 107 (2021) 1 - p. 260-267 , 2021

Link: https://doi.org/10.3324/..

12

Functional analysis of the third identified SLC25A19 mutati..:

Bottega, Roberta ; Perrone, Maria D. ; Vecchiato, Katy...
Journal of Human Genetics. 64 (2019) 11 - p. 1075-1081 , 2019

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

13

Could a chimeric condition be responsible for unexpected ge..:

Bottega, Roberta ; Cappellani, Stefania ; Fabretto, Antonella...
Molecular Genetics & Genomic Medicine. 7 (2019) 3 - p. , 2019

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

14

Two further patients with Warsaw breakage syndrome. Is a mi..:

Bottega, Roberta ; Napolitano, Luisa M. R. ; Carbone, Anna...
Molecular Genetics & Genomic Medicine. 7 (2019) 5 - p. , 2019

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

15

ACTN1 mutations lead to a benign form of platelet macrocyto..:

Faleschini, Michela ; Melazzini, Federica ; Marconi, Caterina...
British Journal of Haematology. 183 (2018) 2 - p. 276-288 , 2018

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