Detalhe da pesquisa
1.
Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.
Sci Rep
; 12(1): 7284, 2022 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35508642
2.
A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.
NPJ Genom Med
; 6(1): 21, 2021 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33664273
3.
Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease.
Prenat Diagn
; 30(8): 758-63, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20661889
4.
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Heart
; 106(17): 1342-1348, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451364
5.
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
Mol Genet Genomic Med
; 7(5): e608, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30916489
6.
Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states.
Schizophr Res
; 174(1-3): 10-16, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27066855