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Bengala, Mario
45  results:
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1

Long-Term Treatment with the Calcitonin Gene-Related Peptid..:

Albanese, Maria ; Pescini, Francesca ; Di Bonaventura, Chiara...
Journal of Clinical Medicine.  13 (2024)  7 - p. 1870 , 2024
Link: https://doi.org/10.3390/..
 
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2

A Novel COL4A5 Pathogenic Variant Joins the Dots in a Famil..:

Graziani, Ludovico ; Minotti, Chiara ; Carriero, Miriam Lucia...
Genes.  15 (2024)  5 - p. 597 , 2024
Link: https://doi.org/10.3390/..
 
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3

A case of hereditary dementia: Is it Alzheimer's disease or..:

Bonomi, Chiara Giuseppina ; Bruno, Matilde ; Colona, Vito Luigi..
Journal of the Neurological Sciences.  458 (2024)  - p. 122947 , 2024
Link: https://doi.org/10.1016/..
 
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4

Genetic Variability of SOX10-Related Disorders within an It..:

Graziani, Ludovico ; Carriero, Miriam Lucia ; Pozzi, Flavio...
Molecular Syndromology.  15 (2024)  4 - p. 339-346 , 2024
Link: https://doi.org/10.1159/..
 
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5

Towards a Long-Read Sequencing Approach for the Molecular D..:

Bonetti, Gabriele ; Cozza, William ; Bernini, Andrea...
International Journal of Molecular Sciences.  24 (2023)  23 - p. 16881 , 2023
Link: https://doi.org/10.3390/..
 
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6

A likely pathogenic ACTG1 variant in a child showing partia..:

Graziani, Ludovico ; Cinnirella, Giacomo ; Ferradini, Valentina...
American Journal of Medical Genetics Part A.  191 (2023)  6 - p. 1565-1569 , 2023
Link: https://doi.org/10.1002/..
 
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7

Case Report: Crossing a rugged road in a primary immune reg..:

Sgrulletti, Mayla ; Cifaldi, Cristina ; Di Cesare, Silvia...
Frontiers in Pediatrics.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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8

Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Gene..:

Graziani, Ludovico ; Zampatti, Stefania ; Carriero, Miriam Lucia...
Genes.  14 (2023)  8 - p. 1589 , 2023
Link: https://doi.org/10.3390/..
 
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9

1p36 Deletion Syndrome and the Aorta: A Report of Three New..:

Lodato, Valentina ; Orlando, Valeria ; Alesi, Viola...
Journal of Cardiovascular Development and Disease.  8 (2021)  11 - p. 159 , 2021
Link: https://doi.org/10.3390/..
 
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10

A 14-Year Italian Experience in DM2 Genetic Testing: Freque..:

Botta, Annalisa ; Visconti, Virginia Veronica ; Fontana, Luana...
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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11

Mutational spectrum and clinical signatures in 114 families..:

Fusco, Carmela ; Nardella, Grazia ; Fischetto, Rita...
Human Molecular Genetics.  28 (2019)  13 - p. 2133-2142 , 2019
Link: https://doi.org/10.1093/..
 
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12

Clinical spectrum of individuals with pathogenicNF1missense..:

Koczkowska, Magdalena ; Callens, Tom ; Chen, Yunjia...
Human Mutation.  41 (2019)  1 - p. 299-315 , 2019
Link: https://doi.org/10.1002/..
 
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13

A 23 years follow-up study identifies GLUT1 deficiency synd..:

Diomedi, Marina ; Gan-Or, Ziv ; Placidi, Fabio...
European Journal of Medical Genetics.  59 (2016)  11 - p. 564-568 , 2016
Link: https://doi.org/10.1016/..
 
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14

20 novel point mutations and one large deletion in EXT1 and..:

Ciavarella, Michele ; Coco, Michelina ; Baorda, Filomena...
Gene.  515 (2013)  2 - p. 339-348 , 2013
Link: https://doi.org/10.1016/..
 
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15

A spectrum of LMX1B mutations in Nail-Patella syndrome: New..:

Marini, Monica ; Bocciardi, Renata ; Gimelli, Stefania...
Genetics in Medicine.  12 (2010)  7 - p. 431-439 , 2010
Link: https://doi.org/10.1097/..
 
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