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Roberta Onesimo
152
results:
Search for persons
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Online (152)
Mediatypes
Articles (Online) (81)
Bookchapter (Online) (2)
OpenAccess-fulltext (69)
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1
Movement disorder phenotype in CTNNB1-syndrome: a complex b..:
Garone, Giacomo
;
Innocenti, Alice
;
Grasso, Melissa
...
Parkinsonism & Related Disorders. , 2024
Link:
https://doi.org/10.1016/..
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2
Ligamentous laxity in children with achondroplasia: Prevale..:
Romeo, Domenico Marco
;
Pironi, Virginia
;
Velli, Chiara
...
European Journal of Medical Genetics. 68 (2024) - p. 104930 , 2024
Link:
https://doi.org/10.1016/..
?
3
Early neurological signs in infants identified through neon..:
Pane, Marika
;
Stanca, Giulia
;
Ticci, Chiara
...
European Journal of Pediatrics. 183 (2024) 7 - p. 2995-2999 , 2024
Link:
https://doi.org/10.1007/..
?
4
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A..:
Trevisan, Valentina
;
Meroni, Anna
;
Leoni, Chiara
...
Genes. 15 (2024) 3 - p. 346 , 2024
Link:
https://doi.org/10.3390/..
?
5
Further case of enlarged spinal nerve roots in KRAS‐related..:
Leoni, Chiara
;
Viscogliosi, Germana
;
Onesimo, Roberta
...
Clinical Genetics. 104 (2023) 1 - p. 136-138 , 2023
Link:
https://doi.org/10.1111/..
?
6
Status epilepticus in BRAF‐related cardio‐facio‐cutaneous s..:
Musto, Elisa
;
Gambardella, Maria Luigia
;
Perulli, Marco
...
Epilepsia Open. 9 (2023) 1 - p. 258-267 , 2023
Link:
https://doi.org/10.1002/..
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7
Lifetime impact of achondroplasia study in Europe (LIAISE):..:
Maghnie, Mohamad
;
Semler, Oliver
;
Guillen-Navarro, Encarna
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
8
Bladder and bowel dysfunction in Down syndrome with neural ..:
Onesimo, Roberta
;
Agazzi, Cristiana
;
Massimi, Luca
...
Italian Journal of Pediatrics. 49 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
9
Aberrant N-myristoylation as a prelude to autoimmune manife..:
Rigante, Donato
;
Leoni, Chiara
;
Onesimo, Roberta
...
Autoimmunity Reviews. 22 (2023) 11 - p. 103462 , 2023
Link:
https://doi.org/10.1016/..
?
10
Insights into the Cardiac Phenotype in 9p Deletion Syndrome..:
Pugnaloni, Flaminia
;
Onesimo, Roberta
;
Blandino, Rita
...
Genes. 14 (2023) 1 - p. 146 , 2023
Link:
https://doi.org/10.3390/..
?
11
What to Expect of Feeding Abilities and Nutritional Aspects..:
Sforza, Elisabetta
;
Margiotta, Gaia
;
Giorgio, Valentina
...
Genes. 14 (2023) 1 - p. 199 , 2023
Link:
https://doi.org/10.3390/..
?
12
The Impact of Blenderized Tube Feeding on Gastrointestinal ..:
Sforza, Elisabetta
;
Limongelli, Domenico
;
Giorgio, Valentina
...
Applied Sciences. 13 (2023) 4 - p. 2173 , 2023
Link:
https://doi.org/10.3390/..
?
13
Artificial Intelligence Procedure for the Screening of Gene..:
Calà, Federico
;
Frassineti, Lorenzo
;
Sforza, Elisabetta
...
Bioengineering. 10 (2023) 12 - p. 1375 , 2023
Link:
https://doi.org/10.3390/..
?
14
Congenital heart defects in CTNNB1 syndrome: Raising clinic..:
Sinibaldi, Lorenzo
;
Garone, Giacomo
;
Mandarino, Alessandra
...
Clinical Genetics. 104 (2023) 5 - p. 528-541 , 2023
Link:
https://doi.org/10.1111/..
?
15
Metabolic Profile of Patients with Smith-Magenis Syndrome: ..:
Cipolla, Clelia
;
Sessa, Linda
;
Rotunno, Giulia
...
Children. 10 (2023) 9 - p. 1451 , 2023
Link:
https://doi.org/10.3390/..
1-15