Detalhe da pesquisa
1.
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Prenat Diagn
; 42(13): 1575-1586, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403097
2.
625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability.
J Hum Genet
; 60(12): 777-80, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26354035
3.
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature.
Genes (Basel)
; 13(12)2022 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553517
4.
Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances.
Genes (Basel)
; 13(5)2022 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35627244
5.
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature.
Mol Syndromol
; 10(3): 147-153, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31191203