Detalhe da pesquisa
1.
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.
Hum Mol Genet
; 29(4): 566-579, 2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31813956
2.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med
; 24(1): 130-145, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906502
3.
Ventricular Tachycardia in a Patient With Dilated Cardiomyopathy Caused by a Novel Mutation of Lamin A/C Gene: Insights From Features on Electroanatomic Mapping, Catheter Ablation and Tissue Pathology.
Heart Lung Circ
; 30(2): 310-317, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33032896
4.
A clinical scoring system for congenital contractural arachnodactyly.
Genet Med
; 22(1): 124-131, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316167
5.
Hypoglycaemia and myotonic dystrophy.
J Paediatr Child Health
; 58(4): 713-714, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184806
6.
Phenotypic insights into ADCY5-associated disease.
Mov Disord
; 31(7): 1033-40, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27061943
7.
Phosphorylation of septin 3 on Ser-91 by cGMP-dependent protein kinase-I in nerve terminals.
Biochem J
; 381(Pt 3): 753-60, 2004 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15107017