Detalhe da pesquisa
1.
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Clin Genet
; 100(1): 14-28, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619735
2.
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.
Clin Genet
; 95(5): 582-589, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30868567
3.
Characterization of H3K9me3- and H4K20me3-associated circulating nucleosomal DNA by high-throughput sequencing in colorectal cancer.
Tumour Biol
; 34(1): 329-36, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23086575
4.
First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome.
Mov Disord
; 33(10): 1665-1666, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30288795
5.
MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction.
JCI Insight
; 5(13)2020 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32641579
6.
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Eur J Hum Genet
; 27(5): 747-759, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664714
7.
A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome.
Gene
; 663: 110-114, 2018 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29655892
8.
Increased DNA integrity in colorectal cancer.
In Vivo
; 28(3): 299-303, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24815830
9.
Relevance of histone marks H3K9me3 and H4K20me3 in cancer.
Anticancer Res
; 32(5): 2199-205, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22593510
10.
Circulating nucleosomes and biomarkers of immunogenic cell death as predictive and prognostic markers in cancer patients undergoing cytotoxic therapy.
Expert Opin Biol Ther
; 12 Suppl 1: S217-24, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22620489
11.
Methods for isolation of cell-free plasma DNA strongly affect DNA yield.
Clin Chim Acta
; 412(23-24): 2085-8, 2011 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21861994