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Bruno, Lucia Pia
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1

Patient preferences in genetic newborn screening for rare d..:

MARTIN, Sylvia ; Angolini, Emanuele ; Audi, Jennifer...
BMJ Open.  14 (2024)  4 - p. e081835 , 2024
Link: https://doi.org/10.1136/..
 
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2

Elucidating the clinical and molecular spectrum of SMARCC2-..:

Bosch, Elisabeth ; Popp, Bernt ; Güse, Esther...
Genetics in Medicine.  25 (2023)  11 - p. 100950 , 2023
Link: https://doi.org/10.1016/..
 
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3

Natural history of KBG syndrome in a large European cohort:

Loberti, Lorenzo ; Bruno, Lucia Pia ; Granata, Stefania...
Human Molecular Genetics.  31 (2022)  24 - p. 4131-4142 , 2022
Link: https://doi.org/10.1093/..
 
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4

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndro..:

Khan, Amjad ; Bruno, Lucia Pia ; Alomar, Fadhel...
Frontiers in Molecular Neuroscience.  15 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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5

Expanding the clinical spectrum associated with the PACS1 p..:

Bruno, Lucia Pia ; Doddato, Gabriella ; Baldassarri, Margherita...
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 284-288 , 2022
Link: https://doi.org/10.1002/..
 
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6

Identification of a Novel Pathogenic Variant in the NAGLU G..:

Bruno, Lucia Pia ; Fava, Francesca ; Baldassarri, Margherita...
Journal of Autism and Developmental Disorders.  52 (2021)  10 - p. 4605-4607 , 2021
Link: https://doi.org/10.1007/..
 
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7

Exome Sequencing in 200 Intellectual Disability/Autistic Pa..:

Valentino, Floriana ; Bruno, Lucia Pia ; Doddato, Gabriella...
Brain Sciences.  11 (2021)  7 - p. 936 , 2021
Link: https://doi.org/10.3390/..
 
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8

Exome Sequencing in BRCA1-2 Candidate Familias: The Contrib..:

Doddato, Gabriella ; Valentino, Floriana ; Giliberti, Annarita...
Frontiers in Oncology.  11 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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9

Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias..:

Doddato, Gabriella ; Valentino, Floriana ; Giliberti, Annarita...
Frontiers in Oncology.  11 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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10

New Candidates for Autism/Intellectual Disability Identifie..:

Bruno, Lucia Pia ; Doddato, Gabriella ; Valentino, Floriana...
International Journal of Molecular Sciences.  22 (2021)  24 - p. 13439 , 2021
Link: https://doi.org/10.3390/..
 
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11

Knowledge and Current Practices in Monogenic Uveitis: An In..:

Gaggiano, Carla ; Gupta, Vishali ; Agrawal, Rupesh...
Ophthalmology and Therapy.  13 (2023)  1 - p. 127-147 , 2023
Link: https://doi.org/10.1007/..
 
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12

Survival Risk Scores for Real-Life Relapsed/Refractory Mult..:

Morabito, Fortunato ; Zamagni, Elena ; Conticello, Concetta...
Frontiers in Oncology.  12 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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13

DMTs and Covid‐19 severity in MS: a pooled analysis from It..:

Sormani, Maria Pia ; Salvetti, Marco ; Labauge, Pierre...
Annals of Clinical and Translational Neurology.  8 (2021)  8 - p. 1738-1744 , 2021
Link: https://doi.org/10.1002/..
 
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14

Early clinical and MRI predictors of long-term disability i..:

De Meo, Ermelinda ; Bonacchi, Raffaello ; Moiola, Lucia...
Neurology.  96 (2021)  15_supplement - p. , 2021
Link: https://doi.org/10.1212/..
 
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15

Early Predictors of 9‐Year Disability in Pediatric Multiple..:

De Meo, Ermelinda ; Bonacchi, Raffaello ; Moiola, Lucia...
Annals of Neurology.  89 (2021)  5 - p. 1011-1022 , 2021
Link: https://doi.org/10.1002/..
 
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