Detalhe da pesquisa
1.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
; 385(20): 1868-1880, 2021 11 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34758253
2.
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
J Med Genet
; 60(5): 505-510, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36411030
3.
Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant.
Pediatr Dev Pathol
; 22(5): 475-479, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-30890023
4.
Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.
Prenat Diagn
; 35(10): 950-8, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25708280
5.
Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.
PLoS Genet
; 6(9): e1001126, 2010 Sep 16.
Artigo
Inglês
| MEDLINE | ID: mdl-20862326
6.
Selenoprotein deficiency disorder predisposes to aortic aneurysm formation.
Nat Commun
; 14(1): 7994, 2023 Dec 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38042913
7.
Fine-scale mapping of the 6p25.3 chronic lymphocytic leukaemia susceptibility locus.
Hum Mol Genet
; 19(9): 1840-5, 2010 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-20123861
8.
Evaluation of germline BMP4 mutation as a cause of colorectal cancer.
Hum Mutat
; 32(1): E1928-38, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-20949628
9.
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer.
Hum Mol Genet
; 17(23): 3720-7, 2008 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-18753146
10.
The CDH1-160C>A polymorphism is a risk factor for colorectal cancer.
Int J Cancer
; 125(7): 1622-5, 2009 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-19569232
11.
Non-invasive prenatal testing for Down syndrome.
Semin Fetal Neonatal Med
; 19(1): 9-14, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24210903
12.
The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression.
Genome Res
; 19(6): 987-93, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19395656