UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Microfluidic Study of Enhanced Deposition of Sickle Cells at Acute Corners

Biophysical journal, 2015-06, Vol.108 (11), p.2623-2632

2015

Volltextzugriff (PDF)

A newly identified ferritin L‐subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia

American journal of hematology, 2024-01, Vol.99 (1), p.12-20

2024

Volltextzugriff (PDF)

Differing impact of the deletion of hemochromatosis‐associated molecules HFE and transferrin receptor‐2 on the iron phenotype of mice lacking bone morphogenetic protein 6 or hemojuvelin

Hepatology (Baltimore, Md.), 2016-01, Vol.63 (1), p.126-137

2016

Volltextzugriff (PDF)

Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families

American journal of hematology, 2022-11, Vol.97 (11), p.E393-E395

2022

Volltextzugriff (PDF)

Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis

European journal of haematology, 2018-10, Vol.101 (4), p.566-569

2018

Volltextzugriff (PDF)

The pivotal role of HbA1c assay to detect hemoglobinopathies: A 5‐year observational retrospective study in the population of Southern France

Health science reports, 2023-07, Vol.6 (7), p.e1270-n/a

2023

Volltextzugriff (PDF)

Recommendations regarding splenectomy in hereditary hemolytic anemias

Haematologica (Roma), 2017-08, Vol.102 (8), p.1304-1313

2017

Volltextzugriff (PDF)

ENERCA: e-Learning Platform

Thalassemia reports, 2014-12, Vol.4 (3), p.4880

Aguilar-Martínez, Patricia

2014

Volltextzugriff (PDF)

Haemoglobinopathies in Europe: health & migration policy perspectives

Orphanet journal of rare diseases, 2014-07, Vol.9 (1), p.97-97, Article 97

2014

Volltextzugriff (PDF)

Further support for the association of GNPAT variant rs11558492 with severe iron overload in hemochromatosis

Hepatology (Baltimore, Md.), 2016-06, Vol.63 (6), p.2054-2055

2016

Volltextzugriff (PDF)

Importance of Sequencing HBA1 , HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin

Genes, 2022-01, Vol.13 (1), p.132

2022

Volltextzugriff (PDF)

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome

Blood, 2011-11, Vol.118 (19), p.5267-5277

2011

Volltextzugriff (PDF)

Inherited factor VII deficiency and surgery: clinical data are the best criteria to predict the risk of bleeding

British journal of haematology, 2002-04, Vol.117 (1), p.172-175

2002

Volltextzugriff (PDF)

P1499: GENETIC FACTORS OF IRON OVERLOAD IN HEREDITARY SPHEROCYTOSIS

HemaSphere, 2023-08, Vol.7 (S3), p.e81244e8-n/a

2023

Volltextzugriff (PDF)

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity

Human mutation, 2012-09, Vol.33 (9), p.1388-1396

2012

Volltextzugriff (PDF)

Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia

HemaSphere, 2024-07, Vol.8 (7), p.e108-n/a

2024

Volltextzugriff (PDF)

The Importance of Characterizing the Hemoglobin Instability of New Variants: The Case of Hb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C]

Hemoglobin, 2020-01, Vol.44 (1), p.13-16

2020

Volltextzugriff (PDF)

The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients

Liver international, 2016-05, Vol.36 (5), p.746-754

2016

Volltextzugriff (PDF)

Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants

Haematologica (Roma), 2011-04, Vol.96 (4), p.507-514

2011

Volltextzugriff (PDF)

Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations

British journal of haematology, 2013-07, Vol.162 (2), p.278-281

2013

Volltextzugriff (PDF)

Transient aplastic crisis triggered by parvovirus B19 in a family with hereditary spherocytosis

IDCases, 2020-01, Vol.21, p.e00802, Article e00802

2020

Volltextzugriff (PDF)

Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype

Haematologica (Roma), 2013-04, Vol.98 (4), p.e42-e43

2013

Volltextzugriff (PDF)

Recommendations for Pregnancy in Rare Inherited Anemias

HemaSphere, 2020-08, Vol.4 (4), p.e446-n/a

2020

Volltextzugriff (PDF)

Challenges and Burden to the Healthcare System: Perspective from Europe

Hemoglobin, 2019-11, Vol.43 (6), p.323-323

Aguilar-Martinez, Patricia

2019

Volltextzugriff (PDF)

1 – 25 von 500

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(382)
Mit Volltextzugriff
(410)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(9)

Menü

Weitere Dienste

Einstellungen

Microfluidic Study of Enhanced Deposition of Sickle Cells at Acute Corners

A newly identified ferritin L‐subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia

Differing impact of the deletion of hemochromatosis‐associated molecules HFE and transferrin receptor‐2 on the iron phenotype of mice lacking bone morphogenetic protein 6 or hemojuvelin

Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families

Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis

The pivotal role of HbA1c assay to detect hemoglobinopathies: A 5‐year observational retrospective study in the population of Southern France

Recommendations regarding splenectomy in hereditary hemolytic anemias

ENERCA: e-Learning Platform

Clinical and biological features in PIEZO1 -hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients

Haemoglobinopathies in Europe: health & migration policy perspectives

Further support for the association of GNPAT variant rs11558492 with severe iron overload in hemochromatosis

Importance of Sequencing HBA1 , HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome

Inherited factor VII deficiency and surgery: clinical data are the best criteria to predict the risk of bleeding

P1499: GENETIC FACTORS OF IRON OVERLOAD IN HEREDITARY SPHEROCYTOSIS

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity

Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia

The Importance of Characterizing the Hemoglobin Instability of New Variants: The Case of Hb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C]

The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients

Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants

Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations

Transient aplastic crisis triggered by parvovirus B19 in a family with hereditary spherocytosis

Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype

Recommendations for Pregnancy in Rare Inherited Anemias

Challenges and Burden to the Healthcare System: Perspective from Europe

Suchergebnisse filtern