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Barili, Valeria
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1

Phenotypic Expansion of Autosomal Dominant LZTR1-Related Di..:

Uliana, Vera ; Ambrosini, Enrico ; Taiani, Antonietta...
Genes.  15 (2024)  7 - p. 916 , 2024
Link: https://doi.org/10.3390/..
 
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2

Pure Parkinsonism as Possible Phenotype Expansion of THAP1‐..:

Ambrosini, Enrico ; Cancilla, Rita ; Paul, Jefri Jeya...
Movement Disorders.  39 (2024)  6 - p. 1072-1074 , 2024
Link: https://doi.org/10.1002/..
 
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3

Mosaic derivative chromosomes at chorionic villi (CV) sampl..:

Vitetta, Giulia ; Desiderio, Laura ; Baccolini, Ilaria...
Molecular Cytogenetics.  17 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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4

Genetic Basis of Breast and Ovarian Cancer: Approaches and ..:

Barili, Valeria ; Ambrosini, Enrico ; Bortesi, Beatrice...
Genes.  15 (2024)  2 - p. 219 , 2024
Link: https://doi.org/10.3390/..
 
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5

Charcot–Marie–Tooth Disease with Myelin Protein Zero Mutati..:

Gemignani, Franco ; Percesepe, Antonio ; Gualandi, Francesca...
International Journal of Molecular Sciences.  25 (2024)  3 - p. 1654 , 2024
Link: https://doi.org/10.3390/..
 
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6

Phenotypic CD8 T cell profiling in chronic hepatitis B to p..:

Rossi, Marzia ; Vecchi, Andrea ; Tiezzi, Camilla...
Gut.  72 (2023)  11 - p. 2123-2137 , 2023
Link: https://doi.org/10.1136/..
 
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7

Deregulated intracellular pathways define novel molecular t..:

Montali, Ilaria ; Ceccatelli Berti, Camilla ; Morselli, Marco...
Journal of Hepatology.  79 (2023)  1 - p. 50-60 , 2023
Link: https://doi.org/10.1016/..
 
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8

TBC1D32 variants disrupt retinal ciliogenesis and cause ret..:

Bocquet, Béatrice ; Borday, Caroline ; Erkilic, Nejla...
JCI Insight.  8 (2023)  21 - p. , 2023
Link: https://doi.org/10.1172/..
 
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9

Success and Pitfalls of Genetic Testing in Undiagnosed Dise..:

Barili, Valeria ; Ambrosini, Enrico ; Uliana, Vera...
Genes.  14 (2023)  6 - p. 1241 , 2023
Link: https://doi.org/10.3390/..
 
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10

Reassessment of the NF1 variants of unknown significance fo..:

Martorana, Davide ; Barili, Valeria ; Uliana, Vera...
European Journal of Medical Genetics.  66 (2023)  11 - p. 104847 , 2023
Link: https://doi.org/10.1016/..
 
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11

High CD49a+ NK cell infiltrate is associated with poor clin..:

Zecca, Alessandra ; Barili, Valeria ; Boni, Carolina...
Heliyon.  9 (2023)  12 - p. e22680 , 2023
Link: https://doi.org/10.1016/..
 
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12

Editorial: Epigenetic and metabolic regulation of immunity ..:

Barili, Valeria ; Fisicaro, Paola ; Boni, Carolina
Frontiers in Immunology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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13

Cancer risks by sex and variant type in PTEN hamartoma tumo..:

Hendricks, Linda A J ; Hoogerbrugge, Nicoline ; Mensenkamp, Arjen R...
JNCI: Journal of the National Cancer Institute.  115 (2022)  1 - p. 93-103 , 2022
Link: https://doi.org/10.1093/..
 
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14

Severe hypertrophic cardiomyopathy in a patient with a homo..:

Serra, Walter ; Vitetta, Giulia ; Uliana, Vera...
Heliyon.  8 (2022)  12 - p. e12373 , 2022
Link: https://doi.org/10.1016/..
 
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15

A patient with mosaic USP9X gene variant:

Barili, Valeria ; Dall'Asta, Andrea ; Uliana, Vera...
European Journal of Medical Genetics.  65 (2022)  12 - p. 104638 , 2022
Link: https://doi.org/10.1016/..
 
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