Detalhe da pesquisa
1.
Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study.
Eur J Haematol
; 95(4): 294-307, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25533856
2.
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Hum Mutat
; 35(1): 15-26, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24115288
3.
Letter to the editor regarding 'Non-cirrhotic portal hypertension associated with multicentric Castleman's disease: a case report'.
Acta Oncol
; 58(4): 515-517, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30764698
4.
Isolated Richter's syndrome of the brain: diagnosis in the eye of the beholder.
Ann Hematol
; 97(8): 1509-1511, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29627880
5.
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
Eur J Haematol
; 91(4): 361-8, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23859443
6.
Non-cirrhotic portal hypertension associated with multicentric Castleman's disease: a case report.
Acta Oncol
; 57(5): 703-705, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29145760
7.
Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population.
Acta Med Port
; 36(2): 81-87, 2023 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150187
8.
Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency.
Ann Hematol
; 95(9): 1551-3, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27342114
9.
Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.
J Pediatr
; 155(6): 888-892.e1, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19643445
10.
Atypical hemolytic-uremic syndrome: recurrent phenotypic expression of a patient with MCP gene mutation combined with risk haplotypes.
Blood Coagul Fibrinolysis
; 30(2): 68-70, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30676336
11.
The use of capillary blood samples in a large scale screening approach for the detection of beta-thalassemia and hemoglobin variants.
Haematologica
; 91(11): 1565, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17082015
12.
Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis.
Haematologica
; 90(8): 1135-6, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16079115
13.
Clinical relevance of erythrocyte ferritin in microcytic anemias.
Clin Chim Acta
; 442: 1-5, 2015 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25562818
14.
Novel human pathological mutations. Gene symbol: SLC40A1. Disease: haemochromatosis, type 4.
Hum Genet
; 125(3): 338, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19309784
15.
Onset of X-linked sideroblastic anemia in the fourth decade.
Haematologica
; 89(10): 1261-3, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15477213
16.
Abnormal NK cell lymphocytosis detected after splenectomy: association with repeated infections, relapsing neutropenia, and persistent polyclonal B-cell proliferation.
Int J Hematol
; 75(5): 484-8, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12095147
17.
Prenatal determination of the fetal RhD blood group by multiplex PCR: a 7-year Portuguese experience.
Prenat Diagn
; 27(7): 633-7, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17497744