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De Brasi, Daniele
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1

Comprehensive Molecular Analysis of Disease-Related Genes a..:

Fioretti, Tiziana ; Martora, Fabrizio ; De Maggio, Ilaria...
Biomedicines.  12 (2024)  5 - p. 1112 , 2024
Link: https://doi.org/10.3390/..
 
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2

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypo..:

Pignata, Laura ; Cecere, Francesco ; Acquaviva, Fabio...
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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3

CHAMP1-related disorders: pathomechanisms triggered by diff..:

Amenta, Simona ; Marangi, Giuseppe ; Orteschi, Daniela...
European Journal of Human Genetics.  31 (2023)  6 - p. 648-653 , 2023
Link: https://doi.org/10.1038/..
 
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4

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type..:

De Falco, Alessandro ; De Brasi, Daniele ; Della Monica, Matteo...
Genes.  14 (2023)  1 - p. 119 , 2023
Link: https://doi.org/10.3390/..
 
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5

Giant bezoar causing recurrent abdominal pain in a young gi..:

Quitadamo, Paolo ; Ranucci, Giusy ; Ragozzino, Stefania...
Journal of Pediatric Surgery Case Reports.  80 (2022)  - p. 102241 , 2022
Link: https://doi.org/10.1016/..
 
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6

Different Mechanisms Cause Hypomethylation of Both H19 and ..:

Passaretti, Francesco ; Pignata, Laura ; Vitiello, Giuseppina...
Genes.  13 (2022)  10 - p. 1875 , 2022
Link: https://doi.org/10.3390/..
 
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7

Fibrodysplasia Ossificans Progressiva: A Challenging Diagno..:

De Brasi, Daniele ; Orlando, Francesca ; Gaeta, Valeria...
Genes.  12 (2021)  8 - p. 1187 , 2021
Link: https://doi.org/10.3390/..
 
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8

Milder presentation of TELO2-related syndrome in two sister..:

Ciaccio, Claudia ; Duga, Valentina ; Pantaleoni, Chiara...
European Journal of Medical Genetics.  64 (2021)  1 - p. 104116 , 2021
Link: https://doi.org/10.1016/..
 
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9

Crohn-Like Colitis in a Young Boy With Hirschsprung Disease:

Verde, Alessandra ; Grammegna, Angelina ; Petrone, Emma...
Inflammatory Bowel Diseases.  27 (2021)  9 - p. e112-e113 , 2021
Link: https://doi.org/10.1093/..
 
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10

Temporal lobe malformations, focal epilepsy, and FGFR3 muta..:

Bernardo, Pia ; Budetta, Mauro ; Aliberti, Ferdinando...
Neurological Sciences.  42 (2021)  5 - p. 2063-2067 , 2021
Link: https://doi.org/10.1007/..
 
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11

Acute disseminated encephalomyelitis in a patient with Noon..:

Delehaye, Chiara ; Della Corte, Marida ; Ranucci, Giusy...
European Journal of Medical Genetics.  64 (2021)  9 - p. 104284 , 2021
Link: https://doi.org/10.1016/..
 
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12

Clinical heterogeneity of Kabuki syndrome in a cohort of It..:

Di Candia, Francesca ; Fontana, Paolo ; Paglia, Pamela...
European Journal of Pediatrics.  181 (2021)  1 - p. 171-187 , 2021
Link: https://doi.org/10.1007/..
 
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13

Pseudo Prune Belly syndrome: a case report with unilateral ..:

De Bernardo, Giuseppe ; Giordano, Maurizio ; De Brasi, Daniele...
Radiology Case Reports.  14 (2019)  8 - p. 941-945 , 2019
Link: https://doi.org/10.1016/..
 
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14

Phenotype and genotype of 87 patients with Mowat–Wilson syn..:

Ivanovski, Ivan ; Djuric, Olivera ; Caraffi, Stefano Giuseppe...
Genetics in Medicine.  20 (2018)  9 - p. 965-975 , 2018
Link: https://doi.org/10.1038/..
 
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15

Muscle imaging in fibrodysplasia ossificans progressiva: Th..:

Tasca, Giorgio ; D'Amico, Adele ; Verardo, Margherita...
Neuromuscular Disorders.  25 (2015)  8 - p. 672-673 , 2015
Link: https://doi.org/10.1016/..
 
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