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Petrucci, Simona
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1

Case report: A novel mutation of glial fibrillary acidic pr..:

Romano, Carmela ; Morena, Emanuele ; Petrucci, Simona...
Frontiers in Neurology.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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2

Embracing Monogenic Parkinson's Disease: The MJFF Global Ge..:

Vollstedt, Eva‐Juliane ; Schaake, Susen ; Lohmann, Katja...
Movement Disorders.  38 (2023)  2 - p. 286-303 , 2023
Link: https://doi.org/10.1002/..
 
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3

The role of genetic testing in suspected fulminant myocardi..:

Mistrulli, Raffaella ; Micolonghi, Caterina ; Follesa, Federico...
Molecular Genetics and Metabolism Reports.  37 (2023)  - p. 101000 , 2023
Link: https://doi.org/10.1016/..
 
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4

Clinical Factors Predicting Multiple Endocrine Neoplasia Ty..:

Faggiano, Antongiulio ; Fazzalari, Beatrice ; Mikovic, Nevena...
Genes.  14 (2023)  9 - p. 1782 , 2023
Link: https://doi.org/10.3390/..
 
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5

European Neuroendocrine Tumor Society 2023 guidance paper f..:

Hofland, Johannes ; Falconi, Massimo ; Christ, Emanuel...
Journal of Neuroendocrinology.  35 (2023)  8 - p. , 2023
Link: https://doi.org/10.1111/..
 
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6

A Novel Nonsense Pathogenic TTN Variant Identified in a Pat..:

Micolonghi, Caterina ; Fabiani, Marco ; Pagannone, Erika...
Current Issues in Molecular Biology.  45 (2023)  3 - p. 2422-2430 , 2023
Link: https://doi.org/10.3390/..
 
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7

Long QTc in hypertrophic cardiomyopathy: A consequence of s..:

Cava, Francesco ; Micolonghi, Caterina ; Musumeci, Maria Beatrice...
Frontiers in Cardiovascular Medicine.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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8

PrenatalCFAP53-related laterality defect: case report and r..:

Mastromoro, Gioia ; Guadagnolo, Daniele ; Novelli, Antonio...
The Journal of Maternal-Fetal & Neonatal Medicine.  36 (2023)  1 - p. , 2023
Link: https://doi.org/10.1080/..
 
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9

Heterozygous Pathogenic Nonsense Variant in the ATM Gene in..:

Guadagnolo, Daniele ; Mastromoro, Gioia ; Marchionni, Enrica...
Biomedicines.  11 (2023)  7 - p. 2062 , 2023
Link: https://doi.org/10.3390/..
 
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10

Genomic Breakpoints' Characterization of a Large CHEK2 Dupl..:

Germani, Aldo ; Guadagnolo, Daniele ; Salvati, Valentina...
Diagnostics.  12 (2022)  7 - p. 1520 , 2022
Link: https://doi.org/10.3390/..
 
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11

A New SMAD4 Splice Site Variant in a Three-Generation Itali..:

Micolonghi, Caterina ; Piane, Maria ; Germani, Aldo...
Diagnostics.  12 (2022)  11 - p. 2684 , 2022
Link: https://doi.org/10.3390/..
 
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12

From Survey Results to a Decision-Making Matrix for Strateg..:

Bianco, Lavinia ; Raffa, Salvatore ; Fornelli, Paolo...
International Journal of Environmental Research and Public Health.  19 (2022)  13 - p. 7806 , 2022
Link: https://doi.org/10.3390/..
 
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13

A dangerous food binge: a case report of hypokalemic period..:

Colucci, Maria Carolina ; Triolo, Marica Fabiana ; Petrucci, Simona...
Italian Journal of Pediatrics.  48 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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14

Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hyp..:

Sciacchitano, Salvatore ; De Francesco, Gian Paolo ; Piane, Maria...
Diagnostics.  12 (2022)  12 - p. 2997 , 2022
Link: https://doi.org/10.3390/..
 
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15

Diagnostic and therapeutic recommendations in adult dystoni..:

Romano, Marcello ; Bagnato, Sergio ; Altavista, Maria Concetta...
Neurological Sciences.  43 (2022)  12 - p. 6929-6945 , 2022
Link: https://doi.org/10.1007/..
 
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