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Carli, Diana
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1

Molecular Basis and Diagnostic Approach to Isolated and Syn..:

Bellucca, Simone ; Carli, Diana ; Gazzin, Andrea...
The Journal of Pediatrics.  274 (2024)  - p. 114177 , 2024
Link: https://doi.org/10.1016/..
 
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2

Loss-of-function variants in ERF are associated with a Noon..:

Dentici, Maria Lisa ; Niceta, Marcello ; Lepri, Francesca Romana...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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3

Identification of DNA methylation episignature for the inte..:

Karimi, Karim ; Mol, Merel O. ; Haghshenas, Sadegheh...
Genetics in Medicine.  26 (2024)  3 - p. 101041 , 2024
Link: https://doi.org/10.1016/..
 
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4

Defining the variant-phenotype correlation in patients affe..:

Gazzin, Andrea ; Fornari, Federico ; Niceta, Marcello...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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5

Blepharophimosis with intellectual disability and Helsmoort..:

Sarli, Camilla ; van der Laan, Liselot ; Reilly, Jack...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  , 2024
Link: https://doi.org/10.1002/..
 
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6

The spectrum of heart defects in theTRAF7-related multiple ..:

Pisan, Elise ; De Luca, Chiara ; Brancati, Francesco...
Proceedings of the National Academy of Sciences.  121 (2024)  12 - p. , 2024
Link: https://doi.org/10.1073/..
 
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7

Functional evaluation of a novel nonsense variant of the ca..:

Saglia, Claudia ; Arruga, Francesca ; Scolari, Caterina...
European Journal of Endocrinology.  190 (2024)  4 - p. 296-306 , 2024
Link: https://doi.org/10.1093/..
 
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8

Exploring New Drug Repurposing Opportunities for MEK Inhibi..:

Gazzin, Andrea ; Fornari, Federico ; Cardaropoli, Simona...
Life.  14 (2024)  6 - p. 731 , 2024
Link: https://doi.org/10.3390/..
 
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9

DNA methylation analysis in patients with neurodevelopmenta..:

Trajkova, Slavica ; Kerkhof, Jennifer ; Rossi Sebastiano, Matteo...
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100309 , 2024
Link: https://doi.org/10.1016/..
 
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10

Determinants of Full Vaccination Coverage among Children Ag..:

Khanam, Moriam ; Jahan, Nahid Akhter ; Carli, Diana
International Journal of Pediatrics.  2024 (2024)  - p. 1-10 , 2024
Link: https://doi.org/10.1155/..
 
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11

Prenatal Clinical Findings in RASA1-Related Capillary Malfo..:

Coccia, Emanuele ; Valeri, Lara ; Zuntini, Roberta...
Genes.  14 (2023)  3 - p. 549 , 2023
Link: https://doi.org/10.3390/..
 
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12

Implications of an Underlying Beckwith–Wiedemann Syndrome f..:

Quarello, Paola ; Carli, Diana ; Biasoni, Davide...
Cancers.  15 (2023)  4 - p. 1292 , 2023
Link: https://doi.org/10.3390/..
 
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13

Skewed X-chromosome inactivation in unsolved neurodevelopme..:

Giovenino, Chiara ; Trajkova, Slavica ; Pavinato, Lisa...
European Journal of Human Genetics.  31 (2023)  11 - p. 1228-1236 , 2023
Link: https://doi.org/10.1038/..
 
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14

Palliative Extubation in Pediatric Patients in the Intensiv..:

Neto, Joana ; Casimiro, Hugo Jorge ; Reis-Pina, Paulo.
International Journal of Pediatrics.  2023 (2023)  - p. 1-9 , 2023
Link: https://doi.org/10.1155/..
 
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15

#4413 MOLECULAR SPECTRUM OF GENETIC ANOMALIES IN PEDIATRIC ..:

Bracciamà, Valeria ; Bucchino, Laura ; Carli, Diana...
Nephrology Dialysis Transplantation.  38 (2023)  Supplement_1 - p. , 2023
Link: https://doi.org/10.1093/..
 
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