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Maltese, Paolo Enrico
114  Ergebnisse:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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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11

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/..
 
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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/..
 
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13

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/..
 
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14

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/..
 
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15

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/..
 
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