Detalhe da pesquisa
1.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755093
2.
Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart.
J Anat
; 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38419169
3.
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(7): e1009679, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34324492
4.
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(9): e1009809, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547032
5.
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
Genet Med
; 23(1): 103-110, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820247
6.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 1952-1960, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113005
7.
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
Genet Med
; 24(4): 965, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394427
8.
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 2013, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522030
9.
Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants.
J Pers Med
; 13(4)2023 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37108997
10.
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.
Eur J Hum Genet
; 30(8): 946-954, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35474353
11.
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
Genome Med
; 12(1): 76, 2020 08 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32859249
12.
Staphylococcus epidermidis Activates Aryl Hydrocarbon Receptor Signaling in Human Keratinocytes: Implications for Cutaneous Defense.
J Innate Immun
; 11(2): 125-135, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30176668
13.
Cleavage Site Localization Differentially Controls Interleukin-6 Receptor Proteolysis by ADAM10 and ADAM17.
Sci Rep
; 6: 25550, 2016 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27151651