Detalhe da pesquisa
1.
Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.
J Med Genet;
50(6): 360-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23564750
2.
Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.
Clin Endocrinol (Oxf);
70(2): 252-8, 2009 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18547339
3.
A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis.
Eur J Med Genet;
54(5): e505-9, 2011.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21736959
4.
Problems in detecting mosaic DNA methylation in Angelman syndrome.
Eur J Hum Genet;
11(12): 913-5, 2003 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14523374
5.
Lp(a) lipoprotein and plasminogen activity in patients with different etiology of ischemic stroke.
Cerebrovasc Dis;
23(2-3): 188-93, 2007.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17143002
6.
Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay.
Am J Med Genet A;
140(5): 488-95, 2006 Mar 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16470789