E-LIB Suche - Ergebnisse für: Fusco, Carmela

1

Case report: EBV-related eye orbits and sinuses lymphohisti..:

Giardino, Giuliana ; Lanni, Vittoria ; Mascolo, Massimo...
Frontiers in Immunology. 15 (2024) - p. , 2024

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

2

Outcome of primary hemophagocytic lymphohistiocytosis: a re..:

Pegoraro, Francesco ; Chinnici, Aurora ; Beneforti, Linda...
Haematologica. , 2024

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

3

Biallelic LZTR1 variants in a 49‐year‐old woman with hypert..:

Di Stolfo, Giuseppe ; Petracca, Antonio ; Bevere, Ester Maria Lucia...
American Journal of Medical Genetics Part A. 194 (2023) 5 - p. , 2023

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

4

Amplification of protease-activated receptors signaling in ..:

Scimone, Concetta ; Alibrandi, Simona ; Donato, Luigi...
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1870 (2023) 5 - p. 119474 , 2023

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

5

Nucleotide substitutions at the p.Gly117 and p.Thr180 mutat..:

Fusco, Carmela ; Nardella, Grazia ; Morlino, Silvia...
Journal of Human Genetics. 69 (2023) 1 - p. 53-58 , 2023

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

6

The ubiquitin ligase TRIM32 promotes the autophagic respons..:

Romagnoli, Alessandra ; Di Rienzo, Martina ; Petruccioli, Elisa...
Cell Death & Disease. 14 (2023) 8 - p. , 2023

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

7

Opitz syndrome: improving clinical interpretation of intron..:

Micale, Lucia ; Russo, Federica ; Mascaro, Martina...
Pediatric Research. 93 (2022) 5 - p. 1208-1215 , 2022

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

8

Integrated imaging of systemic Langerhans cell histiocytosi..:

Cariello, Valentina ; Lombardo, Patrizia ; Castelli, Luisa...
Radiology Case Reports. 17 (2022) 8 - p. 2747-2753 , 2022

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

9

Downexpression of miR-200c-3p Contributes to Achalasia Dise..:

Micale, Lucia ; Fusco, Carmela ; Nardella, Grazia...
International Journal of Molecular Sciences. 24 (2022) 1 - p. 668 , 2022

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

10

Transcriptome Analysis Reveals Altered Expression of Genes ..:

Fusco, Carmela ; Nardella, Grazia ; Di Filippo, Lucio...
Genes. 13 (2022) 6 - p. 961 , 2022

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

11

Loss-of-function variants in exon 4 of TAB2 cause a recogni..:

Micale, Lucia ; Morlino, Silvia ; Carbone, Annalucia...
Genetics in Medicine. 24 (2022) 2 - p. 439-453 , 2022

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

12

Oxidized Substrates of APEH as a Tool to Study the Endoprot..:

Sandomenico, Annamaria ; Gogliettino, Marta ; Iaccarino, Emanuela...
International Journal of Molecular Sciences. 23 (2021) 1 - p. 443 , 2021

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

13

Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobil..:

, In: Advances in Experimental Medicine and Biology; Progress in Heritable Soft Connective Tissue Diseases,

Micale, Lucia ; Fusco, Carmela ; Castori, Marco - p. 207-233 , 2021

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

14

Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant i..:

Micale, Lucia ; Foiadelli, Thomas ; Russo, Federica...
Genes. 12 (2021) 12 - p. 1928 , 2021

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

15

Improving clinical interpretation of five KRIT1 and PDCD10 ..:

Fusco, Carmela ; Nardella, Grazia ; Petracca, Antonio...
Clinical Genetics. 99 (2021) 6 - p. 829-835 , 2021

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