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.
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
PLoS One
; 7(7): e41516, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22848519
3.
Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories.
Genet Med
; 7(9): 620-5, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16301863
4.
Prenatal diagnosis of an extra der(4) resulting from a complex maternal chromosome translocation.
Prenat Diagn
; 24(4): 290-2, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15065104