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Accadia, Maria
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1

Case report: Functional characterization of a novel CHD7 in..:

Rossi, Cesare ; Ramadan, Sherin ; Evangelisti, Cecilia...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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2

Behavioral profiling in children and adolescents with Malan..:

Alfieri, Paolo ; Montanaro, Federica Alice Maria ; Macchiaiolo, Marina...
Frontiers in Child and Adolescent Psychiatry.  2 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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3

Novel genetic variants of KHDC3L and other members of the s..:

Pignata, Laura ; Cecere, Francesco ; Verma, Ankit...
Clinical Epigenetics.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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4

Characterization of Cognitive, Language and Adaptive Profil..:

Alfieri, Paolo ; Macchiaiolo, Marina ; Collotta, Martina...
Journal of Clinical Medicine.  11 (2022)  14 - p. 4078 , 2022
Link: https://doi.org/10.3390/..
 
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5

DNA methylation episignature testing improves molecular dia..:

Kerkhof, Jennifer ; Squeo, Gabriella Maria ; McConkey, Haley...
Genetics in Medicine.  24 (2022)  1 - p. 51-60 , 2022
Link: https://doi.org/10.1016/..
 
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6

A deep phenotyping experience: up to date in management and..:

Macchiaiolo, Marina ; Panfili, Filippo M. ; Vecchio, Davide...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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7

Novel STAG1 Frameshift Mutation in a Patient Affected by a ..:

Di Muro, Ester ; Palumbo, Pietro ; Benvenuto, Mario...
Genes.  12 (2021)  8 - p. 1116 , 2021
Link: https://doi.org/10.3390/..
 
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8

Protein instability associated with AARS1 and MARS1 mutatio..:

Botta, Elena ; Theil, Arjan F ; Raams, Anja...
Human Molecular Genetics.  30 (2021)  18 - p. 1711-1720 , 2021
Link: https://doi.org/10.1093/..
 
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9

Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Delet..:

Palumbo, Pietro ; Di Muro, Ester ; Accadia, Maria...
Genes.  12 (2021)  2 - p. 229 , 2021
Link: https://doi.org/10.3390/..
 
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10

Epicardial Adipose Tissue and IL-13 Response to Myocardial ..:

Parisi, Valentina ; Cabaro, Serena ; D'Esposito, Vittoria...
Frontiers in Physiology.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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11

Long QT syndrome in chromosome 7q35q36.3 deletion involving..:

Di Stolfo, Giuseppe ; Accadia, Maria ; Mastroianno, Sandra...
Molecular Genetics & Genomic Medicine.  7 (2019)  9 - p. , 2019
Link: https://doi.org/10.1002/..
 
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12

Pericardial thrombus and cardiac tamponade after pericardio..:

Accadia, Maria ; Di Maio, Marco ; Iengo, Raffaele...
Echocardiography.  36 (2019)  4 - p. 803-805 , 2019
Link: https://doi.org/10.1111/..
 
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13

Genomic inversions and GOLGA core duplicons underlie diseas..:

Maggiolini, Flavia A. M. ; Cantsilieris, Stuart ; D'Addabbo, Pietro...
PLOS Genetics.  15 (2019)  3 - p. e1008075 , 2019
Link: https://doi.org/10.1371/..
 
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14

Correction to: Case report: acute clinical presentation and..:

Capozza, Manuela ; Chinellato, Iolanda ; Guarnieri, Vito...
BMC Pediatrics.  19 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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15

Case report: acute clinical presentation and neonatal manag..:

Capozza, Manuela ; Chinellato, Iolanda ; Guarnieri, Vito...
BMC Pediatrics.  18 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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