Detalhe da pesquisa
1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
2.
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.
Am J Med Genet A
; 191(1): 284-288, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36210549
3.
SPTBN5, Encoding the ßV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
Front Mol Neurosci
; 15: 877258, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35782384
4.
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes
Front Oncol
; 11: 649435, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34026625
5.
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.
Front Oncol
; 11: 740860, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34485163
6.
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Brain Sci
; 11(7)2021 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356170