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Maltese, Paolo Enrico
211
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Online (211)
Mediatypes
Articles (Online) (101)
Bookchapter (Online) (1)
OpenAccess-fulltext (109)
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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/..
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2
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/..
?
3
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/..
?
4
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/..
?
5
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/..
?
6
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/..
?
7
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/..
?
8
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/..
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9
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/..
?
10
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/..
?
11
USH2A-Related Retinitis Pigmentosa: Staging of Disease Seve..:
Falsini, Benedetto
;
Placidi, Giorgio
;
De Siena, Elisa
...
Diagnostics. 11 (2021) 2 - p. 213 , 2021
Link:
https://doi.org/10.3390/..
?
12
A Novel GUCA1A Variant Associated with Cone Dystrophy Alter..:
Biasi, Amedeo
;
Marino, Valerio
;
Dal Cortivo, Giuditta
...
International Journal of Molecular Sciences. 22 (2021) 19 - p. 10809 , 2021
Link:
https://doi.org/10.3390/..
?
13
A next generation sequencing gene panel for use in the diag..:
Ceccarini, Maria Rachele
;
Precone, Vincenza
;
Manara, Elena
...
Eating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity. 27 (2021) 5 - p. 1869-1880 , 2021
Link:
https://doi.org/10.1007/..
?
14
Imbalance between Expression of FOXC2 and Its lncRNA in Lym..:
Missaglia, Sara
;
Tavian, Daniela
;
Michelini, Sandro
...
Genes. 12 (2021) 5 - p. 650 , 2021
Link:
https://doi.org/10.3390/..
?
15
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/..
1-15