Detalhe da pesquisa
1.
Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.
J Med Genet
; 60(9): 842-849, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37019617
2.
DNA methylation signature classification of rare disorders using publicly available methylation data.
Clin Genet
; 103(6): 688-692, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36705342
3.
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
Eur J Hum Genet
; 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38528056
4.
Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome.
Genes (Basel)
; 14(2)2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833172
5.
High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.
Genes (Basel)
; 13(6)2022 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741732
6.
EWAS of Monozygotic Twins Implicate a Role of mTOR Pathway in Pathogenesis of Tic Spectrum Disorder.
Genes (Basel)
; 12(10)2021 09 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34680906
7.
Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome.
Genes (Basel)
; 12(1)2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33445578
8.
Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1.
Genes (Basel)
; 11(8)2020 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32823742
9.
A comparison of storage methods for gut microbiome studies in teleosts: Insights from rainbow trout (Oncorhynchus mykiss).
J Microbiol Methods
; 160: 42-48, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30885689