Detalhe da pesquisa
1.
Clinical and genetic correlates of islet-autoimmune signatures in juvenile-onset type 1 diabetes.
Diabetologia
; 63(2): 351-361, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31754749
2.
Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
J Med Genet
; 56(2): 75-80, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30368457
3.
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
Epilepsia
; 59(3): 690-703, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29460957
4.
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
Hum Mol Genet
; 23(22): 6081-7, 2014 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24957906
5.
Increased paternal age and the influence on burden of genomic copy number variation in the general population.
Hum Genet
; 132(4): 443-50, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23315237
6.
Long RNA Sequencing and Ribosome Profiling of Inflamed ß-Cells Reveal an Extensive Translatome Landscape.
Diabetes
; 70(10): 2299-2312, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34554924
7.
Using genome-wide pathway analysis to unravel the etiology of complex diseases.
Genet Epidemiol
; 33(5): 419-31, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19235186
8.
Modifier genes in SCN1A-related epilepsy syndromes.
Mol Genet Genomic Med
; 8(4): e1103, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32032478
9.
Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.
Mol Genet Genomic Med
; 7(7): e00727, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31144463
10.
Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population.
PLoS One
; 11(2): e0146502, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26849363
11.
A gene co-expression network in whole blood of schizophrenia patients is independent of antipsychotic-use and enriched for brain-expressed genes.
PLoS One
; 7(6): e39498, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22761806
12.
ATG16L1 and IL23R are associated with inflammatory bowel diseases but not with celiac disease in the Netherlands.
Am J Gastroenterol
; 103(3): 621-7, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18047540