Detalhe da pesquisa
1.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Haematologica
; 108(6): 1652-1666, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36700397
2.
Long-term haematological response and maintained immunological function after laparoscopic subtotal splenectomy in patients with hereditary spherocytosis.
Eur J Haematol
; 111(5): 777-786, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37700575
3.
Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea.
Haematologica
; 107(7): 1577-1588, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34706496
4.
Current German Guidelines on Diagnosis and Treatment of Secondary Hemochromatosis in Patients with Congenital Anemias.
Klin Padiatr
; 234(6): 368-373, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36379226
5.
High-resolution pediatric reference intervals for 15 biochemical analytes described using fractional polynomials.
Clin Chem Lab Med
; 59(7): 1267-1278, 2021 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565284
6.
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood
; 132(5): 469-483, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891534
7.
Liver Iron Content Determination Using a Volumetric Breath-Hold Gradient-Echo Sequence With In-Line R2 * Calculation.
J Magn Reson Imaging
; 52(5): 1550-1556, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32379382
8.
Sickle cell disease in Germany: Results from a national registry.
Pediatr Blood Cancer
; 67(4): e28130, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31867835
9.
Determinants of utilization of cryopreservation of germ cells in adolescent cancer patients in four European countries.
Eur J Pediatr
; 179(1): 51-60, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31493021
10.
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.
Blood
; 130(7): 875-880, 2017 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28559357
11.
Fertility knowledge and associated empowerment following an educational intervention for adolescent cancer patients.
Psychooncology
; 28(11): 2218-2225, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31442341
12.
Next-generation reference intervals for pediatric hematology.
Clin Chem Lab Med
; 57(10): 1595-1607, 2019 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31005947
13.
Serum ferritin is not a reliable predictor to determine iron overload in thalassemia major patients post-hematopoietic stem cell transplantation.
Eur J Haematol
; 101(6): 791-797, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30187571
14.
The epidemiology of sickle cell disease in Germany following recent large-scale immigration.
Pediatr Blood Cancer
; 64(7)2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28383793
15.
Pediatric reference intervals for alkaline phosphatase.
Clin Chem Lab Med
; 55(1): 102-110, 2017 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27505090
16.
Haematological characteristics and spontaneous haematological recovery in Pearson syndrome.
Br J Haematol
; 193(6): 1283-1287, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33837965
17.
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Haematologica
; 101(11): 1306-1318, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27651169
18.
LNK mutations and myeloproliferative disorders.
Am J Hematol
; 91(2): 248-51, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26660394
19.
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
20.
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.
Am J Hum Genet
; 88(2): 226-31, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21310277