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Imperatore, Valentina
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1

IRF2BPL: A new genotype for progressive myoclonus epilepsie:

Costa, Cinzia ; Oliver, Karen L. ; Calvello, Carmen...
Epilepsia.  64 (2023)  8 - p. , 2023
Link: https://doi.org/10.1111/..
 
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2

Expanding the genetic and clinical characteristics of Proto..:

Dell'Isola, Giovanni Battista ; Mencaroni, Elisabetta ; Fattorusso, Antonella...
BMC Medical Genomics.  15 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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3

Identification of a DNA Methylation Episignature in the 22q..:

Rooney, Kathleen ; Levy, Michael A. ; Haghshenas, Sadegheh...
International Journal of Molecular Sciences.  22 (2021)  16 - p. 8611 , 2021
Link: https://doi.org/10.3390/..
 
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4

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Cau..:

Flex, Elisabetta ; Imperatore, Valentina ; Carpentieri, Giovanna...
Genes.  12 (2021)  9 - p. 1406 , 2021
Link: https://doi.org/10.3390/..
 
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5

Clinical and molecular characterizations of 11 new patients..:

Tedesco, Maria Giovanna ; Lonardo, Fortunato ; Ceccarini, Caterina...
American Journal of Medical Genetics Part A.  185 (2021)  4 - p. 1204-1210 , 2021
Link: https://doi.org/10.1002/..
 
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6

Usefulness and Limitations of Comprehensive Characterizatio..:

Gelli, Elisa ; Colombo, Mara ; Pinto, Anna Maria...
Cancers.  11 (2019)  3 - p. 295 , 2019
Link: https://doi.org/10.3390/..
 
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7

Schilbach–Rott syndrome associated with 9q22.32q22.33 dupli..:

Prontera, Paolo ; Rogaia, Daniela ; Sallicandro, Ester...
European Journal of Human Genetics.  27 (2019)  8 - p. 1260-1266 , 2019
Link: https://doi.org/10.1038/..
 
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8

Evidence of predisposing epimutation in retinoblastoma:

Gelli, Elisa ; Pinto, Anna Maria ; Somma, Serena...
Human Mutation.  40 (2018)  2 - p. 201-206 , 2018
Link: https://doi.org/10.1002/..
 
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9

Compound heterozygous missense and deep intronic variants i..:

Catania, Alessia ; Ardissone, Anna ; Verrigni, Daniela...
Journal of Human Genetics.  63 (2018)  5 - p. 563-568 , 2018
Link: https://doi.org/10.1038/..
 
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10

Parent-of-origin effect of hypomorphic pathogenic variants ..:

Imperatore, Valentina ; Pinto, Anna Maria ; Gelli, Elisa...
European Journal of Human Genetics.  26 (2018)  7 - p. 1026-1037 , 2018
Link: https://doi.org/10.1038/..
 
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11

iPSC-derived neurons profiling reveals GABAergic circuit di..:

Landucci, Elisa ; Brindisi, Margherita ; Bianciardi, Laura...
Experimental Cell Research.  368 (2018)  2 - p. 225-235 , 2018
Link: https://doi.org/10.1016/..
 
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12

Urine-derived podocytes-lineage cells: A promising tool for..:

Daga, Sergio ; Baldassarri, Margherita ; Lo Rizzo, Caterina...
Human Mutation.  39 (2017)  2 - p. 302-314 , 2017
Link: https://doi.org/10.1002/..
 
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13

Exome sequencing analysis in a pair of monozygotic twins re..:

Pinto, Anna Maria ; Bianciardi, Laura ; Mencarelli, Maria Antonietta...
Brain and Development.  38 (2016)  6 - p. 590-596 , 2016
Link: https://doi.org/10.1016/..
 
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14

Potentially Treatable Disorder Diagnosed Post Mortem by Exo..:

Imperatore, Valentina ; Mencarelli, Maria ; Fallerini, Chiara...
International Journal of Molecular Sciences.  17 (2016)  3 - p. 306 , 2016
Link: https://doi.org/10.3390/..
 
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15

Exome sequencing coupled with mRNA analysis identifies NDUF..:

Bianciardi, Laura ; Imperatore, Valentina ; Fernandez-Vizarra, Erika...
Molecular Genetics and Metabolism.  119 (2016)  3 - p. 214-222 , 2016
Link: https://doi.org/10.1016/..
 
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