E-LIB Suche - Ergebnisse für: Maltese, Paolo Enrico

1

Genotypic and Phenotypic Characterization of a Cohort of Pa..:

Colombo, Leonardo ; Bonetti, Gabriele ; Maltese, Paolo Enrico...
Ophthalmic Research. , 2024

Link: https://doi.org/10.1159/..

2

A novel homozygous splice site variant in ARL2BP causes a s..:

Placidi, Giorgio ; D'Agostino, Elena ; Maltese, Paolo Enrico...
BMC Medical Genomics. 17 (2024) 1 - p. , 2024

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

3

RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly U..:

D'Esposito, Fabiana ; Randazzo, Viviana ; Vega, Maria Igea...
Medicina. 60 (2024) 2 - p. 254 , 2024

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

4

Genetic Analysis of Patients with Congenital Hypogonadotrop..:

Cannarella, Rossella ; Gusmano, Carmelo ; Condorelli, Rosita A....
International Journal of Molecular Sciences. 24 (2023) 8 - p. 7428 , 2023

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

5

MAGI-ACMG: Algorithm for the Classification of Variants Acc..:

Cristofoli, Francesca ; Daja, Muharrem ; Maltese, Paolo Enrico...
Genes. 14 (2023) 8 - p. 1600 , 2023

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

6

Next-Generation Sequencing of a Large Gene Panel for Outcom..:

Bonetti, Gabriele ; Dhuli, Kristjana ; Ceccarini, Maria Rachele...
Journal of Clinical Medicine. 11 (2022) 24 - p. 7531 , 2022

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

7

Low Efficacy of Genetic Tests for the Diagnosis of Primary ..:

Bonetti, Gabriele ; Paolacci, Stefano ; Samaja, Michele...
International Journal of Molecular Sciences. 23 (2022) 13 - p. 7414 , 2022

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

8

PacMAGI: A pipeline including accurate indel detection for ..:

Sorrentino, Elisa ; Albion, Elena ; Modena, Chiara...
Gene. 832 (2022) - p. 146554 , 2022

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

9

Genetic characteristics of 234 Italian patients with macula..:

Falsini, Benedetto ; Placidi, Giorgio ; De Siena, Elisa...
Scientific Reports. 12 (2022) 1 - p. , 2022

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

10

Editorial: The genetics of inherited retinal diseases in un..:

El Shamieh, Said ; Maltese, Paolo Enrico
Frontiers in Genetics. 13 (2022) - p. , 2022

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

11

Genetics of Inherited Retinal Diseases in Understudied Ethn..:

Maltese, Paolo Enrico ; Colombo, Leonardo ; Martella, Salvatore...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

12

A Multi-Gene Panel to Identify Lipedema-Predisposing Geneti..:

Michelini, Sandro ; Herbst, Karen L. ; Precone, Vincenza...
Journal of Personalized Medicine. 12 (2022) 2 - p. 268 , 2022

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

13

Blue Cone Monochromatism with Foveal Hypoplasia Caused by t..:

Iarossi, Giancarlo ; Coppè, Andrea Maria ; Passarelli, Chiara...
International Journal of Molecular Sciences. 22 (2021) 16 - p. 8617 , 2021

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

14

Impaired Ca2+ Sensitivity of a Novel GCAP1 Variant Causes C..:

Marino, Valerio ; Dal Cortivo, Giuditta ; Maltese, Paolo Enrico...
International Journal of Molecular Sciences. 22 (2021) 8 - p. 4030 , 2021

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

15

Variant Selection and Interpretation: An Example of Modifie..:

Cristofoli, Francesca ; Sorrentino, Elisa ; Guerri, Giulia...
Genes. 12 (2021) 12 - p. 1885 , 2021

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