Detalhe da pesquisa
1.
Long Reads, Short Time: Feasibility of Prenatal Sample Karyotyping by Nanopore Genome Sequencing.
Clin Chem
; 65(12): 1605-1608, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31645339
2.
Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript.
Bioinformatics
; 28(24): 3232-9, 2012 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23093608
3.
A shifting level model algorithm that identifies aberrations in array-CGH data.
Biostatistics
; 11(2): 265-80, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19948744
4.
A very fast and accurate method for calling aberrations in array-CGH data.
Biostatistics
; 11(3): 515-8, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20207682
5.
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Mol Genet Genomic Med
; 8(1): e1056, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31851782
6.
Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies.
Am J Med Genet A
; 149A(10): 2193-9, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19731360
7.
Use of donor bone marrow mesenchymal stem cells for treatment of skin allograft rejection in a preclinical rat model.
Arch Dermatol Res
; 300(3): 115-24, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18259766
8.
Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.
J Matern Fetal Neonatal Med
; 30(6): 710-716, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27226231
9.
Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature.
Int J Fertil Steril
; 9(4): 581-5, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26985348
10.
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.
Circ Cardiovasc Genet
; 7(6): 741-50, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25173926
11.
372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.
Eur J Med Genet
; 55(3): 216-21, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22333924
12.
Sphingosine 1-phosphate induces differentiation of mesoangioblasts towards smooth muscle. A role for GATA6.
PLoS One
; 6(5): e20389, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21629665
13.
An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation.
Clin Dysmorphol
; 22(3): 115-117, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23598465