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

1

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/..

2

Myxedema coma secondary to levothyroxine malabsorption in a..:

Buoso, Caterina ; Cavadini, Maria ; Facondo, Paolo...
Archives of Endocrinology and Metabolism. 68 (2024) - p. , 2024

Link: https://doi.org/10.20945..

3

DEXAMETHASONE IMPLANT VERSUS TOPICAL CARBONIC ANHYDRASE INH..:

Colombo, Leonardo ; Montesano, Giovanni ; Di Domenico, Alice...
Retina. 44 (2024) 5 - p. 852-860 , 2024

Link: https://doi.org/10.1097/..

4

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/..

5

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/..

6

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/..

7

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/..

8

A Case of Bilateral Choroidal Effusion after XEN Gel Stent ..:

Cassottana, Paola ; Toma, Chiara ; Maltese, Cristina...
Gels. 9 (2023) 4 - p. 276 , 2023

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

9

Mapping snow density through thermal inertia observations:

Colombo, Roberto ; Pennati, Greta ; Pozzi, Giulia...
Remote Sensing of Environment. 284 (2023) - p. 113323 , 2023

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

10

Autoimmune polyglandular syndrome type 4: experience from a..:

Gatta, Elisa ; Anelli, Valentina ; Cimino, Elena...
Frontiers in Endocrinology. 14 (2023) - p. , 2023

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

11

Retinitis Pigmentosa Associated with EYS Gene Mutations: Di..:

Placidi, Giorgio ; Maltese, Paolo ; Savastano, Maria...
Diagnostics. 13 (2023) 5 - p. 850 , 2023

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

12

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/..

13

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/..

14

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/..

15

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/..