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.
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Eur J Hum Genet
; 31(4): 474-478, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36529819
3.
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.
Reprod Sci
; 28(4): 1142-1149, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33409881
4.
A new approach for Next Generation Sequencing in prenatal diagnosis applied to a case of Charcot-Marie-Tooth syndrome.
Prenat Diagn
; 35(10): 1018-21, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26094742
5.
Reducing violence and injury in the WHO European region.
Lancet Public Health
; 5(8): e422, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32679034
6.
Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis.
J Prenat Med
; 8(1-2): 17-24, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25332755
7.
Comparative study of aCGH and Next Generation Sequencing (NGS) for chromosomal microdeletion and microduplication screening.
J Prenat Med
; 8(3-4): 57-69, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-26266003
8.
Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population.
J Prenat Med
; 8(3-4): 50-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-26266002
9.
Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization.
AJP Rep
; 1(1): 29-32, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23705081
10.
The use of DHPLC (Denaturing High Performance Liquid Chromatography) in II level screening of the CFTR gene in Prenatal Diagnosis.
J Prenat Med
; 4(3): 45-8, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22439061
11.
Introducing the next generation sequencing in genomic amnio and villuos sampling. The so called "Next Generation Prenatal Diagnosis" (NGPD).
J Prenat Med
; 8(1-2): 1-10, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25332753
12.
Prenatal screening of Cystic Fibrosis: a single centre experience.
J Prenat Med
; 2(1): 6-10, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22439019