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RESTA, Nicoletta
194
results:
Search for persons
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Online (194)
Mediatypes
Articles (Online) (93)
OpenAccess-fulltext (101)
Sorted by: Relevance
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1
First report of whole CFTR gene duplication in a healthy ne..:
Diana, Anna
;
Polizzi, Angela Maria
;
De Luisi, Annunziata
...
Journal of Cystic Fibrosis. , 2024
Link:
https://doi.org/10.1016/..
?
2
A multi-step approach to overcome challenges in the managem..:
Trevisan, Valentina
;
De Corso, Eugenio
;
Viscogliosi, Germana
...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
3
Corrigendum to 'Coinheritance of germline mutations in APC ..:
Forte, Giovanna
;
Cariola, Filomena
;
Buonadonna, Antonia Lucia
...
Genes & Diseases. 11 (2024) 2 - p. 1084 , 2024
Link:
https://doi.org/10.1016/..
?
4
Missense and Non-Missense Lamin A/C Gene Mutations Are Simi..:
Forleo, Cinzia
;
Carella, Maria Cristina
;
Basile, Paolo
...
Biomedicines. 12 (2024) 6 - p. 1293 , 2024
Link:
https://doi.org/10.3390/..
?
5
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/..
?
6
De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralog..:
Bukvic, Nenad
;
De Rinaldis, Marta
;
Chetta, Massimiliano
...
Genes. 15 (2024) 7 - p. 826 , 2024
Link:
https://doi.org/10.3390/..
?
7
Genetic and clinical features of familial mediterranean fev..:
Di Ciaula, Agostino
;
Iacoviello, Matteo
;
Bonfrate, Leonilde
...
European Journal of Internal Medicine. 115 (2023) - p. 79-87 , 2023
Link:
https://doi.org/10.1016/..
?
8
What Have We Learned from Patients Who Have Arboleda-Tham S..:
Bukvic, Nenad
;
Chetta, Massimiliano
;
Bagnulo, Rosanna
...
Genes. 14 (2023) 1 - p. 165 , 2023
Link:
https://doi.org/10.3390/..
?
9
Sigma-2 Receptor Ligand Binding Modulates Association betwe..:
Thejer, Bashar M.
;
Infantino, Vittoria
;
Santarsiero, Anna
...
International Journal of Molecular Sciences. 24 (2023) 7 - p. 6381 , 2023
Link:
https://doi.org/10.3390/..
?
10
Coinheritance of germline mutations in APC and MUTYH genes ..:
Forte, Giovanna
;
Cariola, Filomena
;
Buonadonna, Antonia Lucia
...
Genes & Diseases. 10 (2023) 4 - p. 1187-1189 , 2023
Link:
https://doi.org/10.1016/..
?
11
The somatic p.T81dup variant in AKT3 gene underlies a mild ..:
Luca, Maria
;
Piglionica, Marilidia
;
Bagnulo, Rosanna
...
Genes, Chromosomes and Cancer. 62 (2023) 12 - p. 703-709 , 2023
Link:
https://doi.org/10.1002/..
?
12
Work-Up and Treatment Strategies for Individuals with PIK3C..:
Gazzin, Andrea
;
Leoni, Chiara
;
Viscogliosi, Germana
...
Genes. 14 (2023) 12 - p. 2134 , 2023
Link:
https://doi.org/10.3390/..
?
13
Epidemiology of the disorders of the Pik3ca-related overgro..:
Reynolds, Giuseppe
;
Cardaropoli, Simona
;
Carli, Diana
...
European Journal of Human Genetics. 31 (2023) 11 - p. 1333-1336 , 2023
Link:
https://doi.org/10.1038/..
?
14
Autophagy increase in Merosin-Deficient Congenital Muscular..:
Mastrapasqua, Mariangela
;
Rossi, Roberta
;
De Cosmo, Lucrezia
...
European Journal of Translational Myology. 33 (2023) 3 - p. , 2023
Link:
https://doi.org/10.4081/..
?
15
Impact of High-to-Moderate Penetrance Genes on Genetic Test..:
Turchiano, Antonella
;
Piglionica, Marilidia
;
Martino, Stefania
...
Genes. 14 (2023) 8 - p. 1530 , 2023
Link:
https://doi.org/10.3390/..
1-15