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Maltese, Paolo Enrico
211  Ergebnisse:
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1

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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2

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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3

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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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/..
 
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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/..
 
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6

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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7

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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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/..
 
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9

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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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

Spectral-Domain Optical Coherence Tomography Analysis in Sy..:

Colombo, Leonardo ; Maltese, Paolo Enrico ; Romano, Dario...
Ophthalmic Research.  65 (2021)  2 - p. 180-195 , 2021
Link: https://doi.org/10.1159/..
 
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12

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/..
 
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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/..
 
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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/..
 
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15

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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