nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV
|
Speletas, Matthaios |
|
2008 |
40 |
3 |
p. 353-359 7 p. |
artikel |
2 |
A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia
|
Kedar, Prabhakar S. |
|
2008 |
40 |
3 |
p. 323-327 5 p. |
artikel |
3 |
A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients
|
Swinkels, Dorine W. |
|
2008 |
40 |
3 |
p. 334-338 5 p. |
artikel |
4 |
CEBPA polymorphisms and mutations in patients with acute myeloid leukemia, myelodysplastic syndrome, multiple myeloma and non-Hodgkin's lymphoma
|
Fuchs, Ota |
|
2008 |
40 |
3 |
p. 401-405 5 p. |
artikel |
5 |
Cre recombinase expression controlled by the hematopoietic regulatory domain of Gata-1 is erythroid-specific
|
Yoon, Donghoon |
|
2008 |
40 |
3 |
p. 381-387 7 p. |
artikel |
6 |
Editorial Board
|
|
|
2008 |
40 |
3 |
p. IFC- 1 p. |
artikel |
7 |
Evidence from limited proteolysis of a ristocetin-induced conformational change in human von Willebrand factor that promotes its binding to platelet glycoprotein Ib-IX-V
|
Kang, Moonkyu |
|
2008 |
40 |
3 |
p. 433-443 11 p. |
artikel |
8 |
Ferroportin: Lack of evidence for multimers
|
Schimanski, Lisa M. |
|
2008 |
40 |
3 |
p. 360-369 10 p. |
artikel |
9 |
Gaucher disease: Report of de novo GBA mutation in a Spanish family
|
Alfonso, Pilar |
|
2008 |
40 |
3 |
p. 444-445 2 p. |
artikel |
10 |
Gγ-196 C→T, Aγ-201 C→T: Two novel mutations in the promoter region of the γ-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece
|
Tasiopoulou, Magdalini |
|
2008 |
40 |
3 |
p. 320-322 3 p. |
artikel |
11 |
Gene expression profiling for improved dissection of acute leukemia: A recently identified immature myeloid/T-lymphoid subgroup as an example
|
Wouters, Bas J. |
|
2008 |
40 |
3 |
p. 395-400 6 p. |
artikel |
12 |
Hepatic iron concentration, fibrosis and response to venesection associated with the A77D and V162del “loss of function” mutations in ferroportin disease
|
Lim, Francesca L. |
|
2008 |
40 |
3 |
p. 328-333 6 p. |
artikel |
13 |
Measurement of urinary hepcidin levels by SELDI-TOF-MS in HFE-hemochromatosis
|
Bozzini, Claudia |
|
2008 |
40 |
3 |
p. 347-352 6 p. |
artikel |
14 |
Molecular basis of pyrimidine 5′-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations
|
Chiarelli, Laurent R. |
|
2008 |
40 |
3 |
p. 295-301 7 p. |
artikel |
15 |
Molecular structure of the extracellular region of Lutheran blood group glycoprotein and location of the laminin binding site
|
Burton, Nicholas M. |
|
2008 |
40 |
3 |
p. 446-448 3 p. |
artikel |
16 |
Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy
|
Langeveld, M. |
|
2008 |
40 |
3 |
p. 428-432 5 p. |
artikel |
17 |
p15Ink4b: Dual function in myelopoiesis and inactivation in myeloid disease
|
Rosu-Myles, Michael |
|
2008 |
40 |
3 |
p. 406-409 4 p. |
artikel |
18 |
Plasma lipids are altered in Gaucher disease: Biochemical markers to evaluate therapeutic intervention
|
Meikle, Peter J. |
|
2008 |
40 |
3 |
p. 420-427 8 p. |
artikel |
19 |
p38MAPKδ controls c-Myb degradation in response to stress
|
Pani, Elisabetta |
|
2008 |
40 |
3 |
p. 388-394 7 p. |
artikel |
20 |
Prevalence of H63D, S65C and C282Y mutations of the HFE gene in 1120 voluntary blood donors from Antioquia region of northwest Colombia
|
Avila-Gomez, Isabel Cristina |
|
2008 |
40 |
3 |
p. 449-451 3 p. |
artikel |
21 |
Prevalence of pyruvate kinase deficiency among the south Iranian population: Quantitative assay and molecular analysis
|
Yavarian, M. |
|
2008 |
40 |
3 |
p. 308-311 4 p. |
artikel |
22 |
Reduced erythroid cell and erythropoietin production in response to acute anemia in prion protein-deficient (Prnp−/−) mice
|
Zivny, Jan H. |
|
2008 |
40 |
3 |
p. 302-307 6 p. |
artikel |
23 |
Regulation of hepcidin: Insights from biochemical analyses on human serum samples
|
Kemna, Erwin H.J.M. |
|
2008 |
40 |
3 |
p. 339-346 8 p. |
artikel |
24 |
Role of p38 in regulation of hematopoiesis: Effect of p38 inhibition on cytokine production and transcription factor activity in human bone marrow stromal cells
|
Scicchitano, Marshall S. |
|
2008 |
40 |
3 |
p. 370-380 11 p. |
artikel |
25 |
Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients
|
Harteveld, C.L. |
|
2008 |
40 |
3 |
p. 312-316 5 p. |
artikel |
26 |
The activity of calpains in lymphocytes is glucose-dependent and is decreased in diabetic patients
|
Díaz-Villaseñor, Andrea |
|
2008 |
40 |
3 |
p. 414-419 6 p. |
artikel |
27 |
The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency
|
Kida, Miyuki |
|
2008 |
40 |
3 |
p. 410-413 4 p. |
artikel |
28 |
The molecular heterogeneity of β-thalassemia in Greece
|
Boussiou, Marina |
|
2008 |
40 |
3 |
p. 317-319 3 p. |
artikel |
29 |
Upregulation of MEL1 and FLJ42875 genes by position effect resulting from a t(1;2)(p36;p21) occurring during evolution of chronic myelomonocytic leukemia
|
Storlazzi, C.T. |
|
2008 |
40 |
3 |
p. 452-455 4 p. |
artikel |