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Bellacchio, Emanuele
181  results:
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1

Analysis of the AIRE Gene Promoter in Patients Affected by ..:

Cudini, Annamaria ; Nardella, Caterina ; Bellacchio, Emanuele...
International Journal of Molecular Sciences.  25 (2024)  5 - p. 2656 , 2024
Link: https://doi.org/10.3390/..
 
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2

De Novo DNM1L Mutation in a Patient with Encephalopathy, Ca..:

Berti, Beatrice ; Verrigni, Daniela ; Nasca, Alessia...
International Journal of Molecular Sciences.  25 (2024)  14 - p. 7782 , 2024
Link: https://doi.org/10.3390/..
 
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3

P360: Phenotypic and molecular characterization of a cohort..:

Wongkittichote, Parith ; Lasio, Laura Duque ; Magistrati, Martina...
Genetics in Medicine Open.  1 (2023)  1 - p. 100388 , 2023
Link: https://doi.org/10.1016/..
 
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4

Novel EDA mutations cause X-linked hypohidrotic ectodermal ..:

Cammarata-Scalisi, Francisco ; Callea, Michele ; Chaudhary, Ajay Kumar...
Clinical and Experimental Dermatology.  48 (2023)  12 - p. 1409-1413 , 2023
Link: https://doi.org/10.1093/..
 
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5

Exploring the Mechanism of Activation of CFTR by Curcuminoi..:

Bellacchio, Emanuele
International Journal of Molecular Sciences.  25 (2023)  1 - p. 552 , 2023
Link: https://doi.org/10.3390/..
 
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6

Novel loss of function mutation in TUBA1A gene compromises ..:

Zocchi, Riccardo ; Bellacchio, Emanuele ; Piccione, Michela...
Frontiers in Cellular Neuroscience.  17 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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7

Phenotypic, molecular, and functional characterization of C..:

Wongkittichote, Parith ; Duque Lasio, Maria Laura ; Magistrati, Martina...
Molecular Genetics and Metabolism.  139 (2023)  4 - p. 107630 , 2023
Link: https://doi.org/10.1016/..
 
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8

Clinical profiling of MRD48 and functional characterization..:

Priolo, Manuela ; Zara, Erika ; Radio, Francesca Clementina...
European Journal of Human Genetics.  31 (2023)  7 - p. 805-814 , 2023
Link: https://doi.org/10.1038/..
 
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9

Dominantly acting KIF5B variants with pleiotropic cellular ..:

Flex, Elisabetta ; Albadri, Shahad ; Radio, Francesca Clementina...
Human Molecular Genetics.  32 (2022)  3 - p. 473-488 , 2022
Link: https://doi.org/10.1093/..
 
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10

Postnatal microcephaly and retinal involvement expand the p..:

Cappuccio, Gerarda ; De Bernardi, Margherita Lucia ; Morlando, Alessia...
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 3032-3040 , 2022
Link: https://doi.org/10.1002/..
 
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11

Pathomorphogenesis of Glycogen-Ground Glass Hepatocytic Inc..:

Callea, Francesco ; Francalanci, Paola ; Grimaldi, Chiara...
International Journal of Molecular Sciences.  23 (2022)  17 - p. 9996 , 2022
Link: https://doi.org/10.3390/..
 
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12

Functional analysis of missense DARS2 variants in siblings ..:

Wongkittichote, Parith ; Magistrati, Martina ; Shimony, Joshua S....
Molecular Genetics and Metabolism.  136 (2022)  4 - p. 260-267 , 2022
Link: https://doi.org/10.1016/..
 
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13

Intramolecular Interaction with the E6 Region Stabilizes th..:

Bellacchio, Emanuele
International Journal of Molecular Sciences.  23 (2022)  9 - p. 4794 , 2022
Link: https://doi.org/10.3390/..
 
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14

Cerebellar Agenesis and Bilateral Polimicrogyria Associated..:

Costanzo, Floriana ; Zanni, Ginevra ; Fucà, Elisa...
International Journal of Environmental Research and Public Health.  19 (2022)  3 - p. 1224 , 2022
Link: https://doi.org/10.3390/..
 
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15

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Mini..:

Rotunno, Roberta ; Diociaiuti, Andrea ; Dentici, Maria Lisa...
Genes.  12 (2021)  5 - p. 748 , 2021
Link: https://doi.org/10.3390/..
 
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