Detalhe da pesquisa
1.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Clin Genet
; 104(5): 528-541, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455656
2.
The heart in RASopathies.
Am J Med Genet C Semin Med Genet
; 190(4): 440-451, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36408797
3.
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.
Am J Med Genet A
; 188(7): 2184-2186, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373511
4.
Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by RASopathies: Clinical implications and literature review.
Am J Med Genet A
; 188(2): 431-445, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34643321
5.
Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.
Am J Med Genet A
; 185(7): 2003-2011, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811726
6.
RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype.
Pediatr Res
; 93(4): 752-754, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35794250
7.
Utility of Rapid Nasopharyngeal Swab for Respiratory Pathogens in the Diagnosis of Viral Infections in Children Hospitalized with Fever: A Prospective Validation Study to Improve Antibiotic Use.
Children (Basel)
; 11(2)2024 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397338
8.
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.
Genes (Basel)
; 14(1)2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672887