E-LIB Suche - Ergebnisse für: De Paolis, Elisa

1

The novel CFTR haplotype E583G/F508del in CFTR-related diso..:

De Paolis, Elisa ; Tilocca, Bruno ; Inchingolo, Riccardo...
Molecular Biology Reports. 51 (2024) 1 - p. , 2024

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

2

Identification of a False-positive Multiplex Ligationdepend..:

Concolino, Paola ; De Paolis, Elisa ; Rinelli, Martina...
Annals of Laboratory Medicine. , 2024

Link: https://doi.org/10.3343/..

3

Identification and Molecular Characterization of a Novel La..:

Concolino, Paola ; De Paolis, Elisa ; Moffa, Simona...
Genes. 14 (2023) 6 - p. 1275 , 2023

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

4

Correction: Lung cancer multi-omics digital human avatars f..:

Lococo, Filippo ; Boldrini, Luca ; Diepriye, Charles-Davies...
BMC Cancer. 23 (2023) 1 - p. , 2023

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

5

Lung cancer multi-omics digital human avatars for integrati..:

Lococo, Filippo ; Boldrini, Luca ; Diepriye, Charles-Davies...
BMC Cancer. 23 (2023) 1 - p. , 2023

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

6

Assessing the pathogenicity of BRCA1/2 variants of unknown ..:

De Paolis, Elisa ; Paris, Ida ; Tilocca, Bruno...
Frontiers in Oncology. 12 (2023) - p. , 2023

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

7

Next-Generation Sequencing for Screening Analysis of Cystic..:

De Paolis, Elisa ; Tilocca, Bruno ; Lombardi, Carla...
Genes. 14 (2023) 8 - p. 1608 , 2023

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

8

Unexpected finding of a rare pathogenic germline BRCA1 vari..:

De Bonis, Maria ; Mannavola, Francesco ; Salvatore, Lisa...
Molecular Biology Reports. 50 (2023) 8 - p. 7113-7120 , 2023

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

9

Role of Homologous Recombination Repair (HRR) Genes in Uter..:

Ciccarone, Francesca ; Bruno, Matteo ; De Paolis, Elisa...
Cancers. 14 (2022) 8 - p. 1934 , 2022

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

10

A commentary on the discrepancy between blood and tumour BR..:

De Paolis, Elisa ; Marchetti, Claudia ; Concolino, Paola...
BJOG: An International Journal of Obstetrics & Gynaecology. 129 (2022) 9 - p. 1422-1426 , 2022

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

11

A Computational Framework for Comprehensive Genomic Profili..:

Giacò, Luciano ; Palluzzi, Fernando ; Guido, Davide...
Cancers. 14 (2022) 24 - p. 6152 , 2022

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

12

A Novel GCK Large Genomic Rearrangement in a Patient with M..:

Concolino, Paola ; Tartaglione, Linda ; De Paolis, Elisa...
Genes. 13 (2022) 11 - p. 2104 , 2022

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

13

A Novel ATM Pathogenic Variant in an Italian Woman with Gal..:

De Paolis, Elisa ; Urbani, Andrea ; Salvatore, Lisa...
Genes. 12 (2021) 2 - p. 313 , 2021

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

14

The BRCA1 c.788G > T (NM_007294.4) variant in a high grade ..:

De Paolis, Elisa ; Pietragalla, Antonella ; De Bonis, Maria...
Molecular Biology Reports. 48 (2021) 3 - p. 2985-2992 , 2021

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

15

Case Report: Detection of a Novel Germline PALB2 Deletion i..:

De Angelis, Carmine ; Nardelli, Carmela ; Concolino, Paola...
Frontiers in Oncology. 11 (2021) - p. , 2021

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