Detalhe da pesquisa
1.
Performance comparison: exome sequencing as a single test replacing Sanger sequencing.
Mol Genet Genomics
; 296(3): 653-663, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33694043
2.
Hereditary alpha-tryptasemia in 101 patients with mast cell activation-related symptomatology including anaphylaxis.
Ann Allergy Asthma Immunol
; 126(6): 655-660, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33465452
3.
Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.
Genet Res (Camb)
; 98: e8, 2016 05 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27173948
4.
Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.
Genet Res (Camb)
; 98: e10, 2016 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27265430
5.
Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.
Hum Mutat
; 36(4): 439-42, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25645515
6.
Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.
J Lipid Res
; 55(2): 307-12, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24262094
7.
Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes.
Eur J Hum Genet
; 29(10): 1510-1519, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958743
8.
A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.
Hum Mutat
; 29(12): 1387-91, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18629826
9.
The genetic variation in the R1a clade among the Ashkenazi Levites' Y chromosome.
Sci Rep
; 7(1): 14969, 2017 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097670
10.
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
Mol Genet Genomic Med
; 5(3): 223-236, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28546993
11.
Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.
Eur J Hum Genet
; 24(11): 1635-1638, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27329731
12.
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.
Eur J Hum Genet
; 24(12): 1792-1796, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27601210
13.
Genome-wide linkage and positional candidate gene study of blood pressure response to dietary potassium intervention: the genetic epidemiology network of salt sensitivity study.
Circ Cardiovasc Genet
; 3(6): 539-47, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20861505