Detalhe da pesquisa
1.
A Prospective Study of Sudden Cardiac Death among Children and Young Adults.
N Engl J Med
; 374(25): 2441-52, 2016 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27332903
2.
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.
Genet Med
; 20(12): 1627-1634, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29595813
3.
Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.
Genet Med
; 20(11): 1485, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388943
4.
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.
Genet Med
; 20(5): 513-523, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261177
5.
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
Clin Chem
; 62(2): 343-52, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26715660
6.
Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy.
J Pediatr
; 162(1): 155-9, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22809660
7.
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.
Eur J Hum Genet
; 31(9): 1003-1009, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37443332
8.
Dysfunction of axonal membrane conductances in adolescents and young adults with spinal muscular atrophy.
Brain
; 134(Pt 11): 3185-97, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21926101
9.
A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.
Neurogenetics
; 12(4): 307-13, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21830088
10.
Premature arthritis is a distinct type II collagen phenotype.
Arthritis Rheum
; 62(5): 1421-30, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20131279
11.
Population-based genetic carrier screening for cystic fibrosis in Victoria.
Med J Aust
; 200(4): 205-6, 2014 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24580517
12.
Population screening and cascade testing for carriers of SMA.
Eur J Hum Genet
; 15(7): 759-66, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17392705
13.
Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68.
Genes (Basel)
; 8(2)2017 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28125019
14.
Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC).
Hum Mutat
; 27(4): 388, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16541406
15.
Detection of mutations in genes associated with hearing loss using a microarray-based approach.
J Mol Diagn
; 8(4): 483-9; quiz 528, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16931589
16.
Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.
Genes (Basel)
; 7(9)2016 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27657133
17.
Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.
Hum Mutat
; 24(3): 261-71, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15300853
18.
A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy with cardiac magnetic resonance imaging: linking genotype with fibrotic phenotype.
Eur Heart J Cardiovasc Imaging
; 15(10): 1108-16, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24819852
19.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Nat Genet
; 46(2): 107-115, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24362816
20.
A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.
Mitochondrion
; 13(6): 656-61, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24063851