UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 70

Sortiert nach

Mutation of Angiopoietin-1 Gene Associates with a New Type of Hereditary Angioedema

Journal of allergy and clinical immunology, 2018-03, Vol.141 (3), p.1009-1017

2018

Link zum Volltext

Verfügbarkeit prüfen

The Role of Genetics in the Management of Heart Failure Patients

International journal of molecular sciences, 2023-10, Vol.24 (20), p.15221

2023

Link zum Volltext

Verfügbarkeit prüfen

The Genetics of Hereditary Angioedema: A Review

Journal of clinical medicine, 2021-05, Vol.10 (9), p.2023

2021

Link zum Volltext

Verfügbarkeit prüfen

A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis

Genes, 2023-06, Vol.14 (7), p.1380

2023

Link zum Volltext

Verfügbarkeit prüfen

Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria

BMC pregnancy and childbirth, 2019-08, Vol.19 (1), p.318-318, Article 318

2019

Link zum Volltext

Verfügbarkeit prüfen

A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis

Genes, 2023-02, Vol.14 (2), p.427

2023

Link zum Volltext

Verfügbarkeit prüfen

The risk of occurrence of venous thrombosis: focus on protein Z

Thrombosis research, 2011-12, Vol.128 (6), p.508-515

2011

Link zum Volltext

Verfügbarkeit prüfen

The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype

Haematologica (Roma), 2008-05, Vol.93 (5), p.722-728

2008

Link zum Volltext

Verfügbarkeit prüfen

Use of Catridecacog in a patient with severe Factor XIII deficiency undergoing surgery

Hematology reports, 2019-02, Vol.11 (1), p.7912-7912

2019

Link zum Volltext

Verfügbarkeit prüfen

A myoferlin gain‐of‐function variant associates with a new type of hereditary angioedema

Allergy (Copenhagen), 2020-11, Vol.75 (11), p.2989-2992

2020

Link zum Volltext

Verfügbarkeit prüfen

Angiopoietin‐1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema

Clinical and experimental allergy, 2019-05, Vol.49 (5), p.626-635

2019

Link zum Volltext

Verfügbarkeit prüfen

DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology

Journal of allergy and clinical immunology, 2024-05

2024

Link zum Volltext

Verfügbarkeit prüfen

A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin

Blood, 2005-01, Vol.105 (2), p.645-649

2005

Link zum Volltext

Verfügbarkeit prüfen

Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia a in southern Italy

Blood coagulation & fibrinolysis, 2008-04, Vol.19 (3), p.197-202

2008

Link zum Volltext

Verfügbarkeit prüfen

Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group

Blood coagulation & fibrinolysis, 2006-06, Vol.17 (4), p.235-240

2006

Link zum Volltext

Verfügbarkeit prüfen

416 DESMOPLAKIN CARDIOMYOPATHY PRESENTING WITH CARDIAC ARREST IN A PATIENT WITH MYOCARDIAL NON-COMPACTION AND LEFT ACCESSORY PATHWAY

European heart journal supplements, 2022-12, Vol.24 (Supplement_K)

2022

Link zum Volltext

Verfügbarkeit prüfen

A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (α2-antiplasmin) deficiency in an Italian patient

Thrombosis research, 2018-06, Vol.166, p.60-62

2018

Link zum Volltext

Verfügbarkeit prüfen

Analysis of Clinically Relevant Single-Nucleotide Polymorphisms by Use of Microelectronic Array Technology

Clinical chemistry (Baltimore, Md.), 2002-12, Vol.48 (12), p.2124-2130

2002

Link zum Volltext

Verfügbarkeit prüfen

Genome‐Wide Association Study Identifies First Locus Associated with Susceptibility to Cerebral Venous Thrombosis

Annals of neurology, 2021-11, Vol.90 (5), p.777-788

2021

Link zum Volltext

Verfügbarkeit prüfen

ABCB1 SNP rs4148738 Modulation of Apixaban Interindividual Variability

Thrombosis research, 2016-09, Vol.145, p.24-26

2016

Link zum Volltext

Verfügbarkeit prüfen

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU

Gene, 2016-12, Vol.594 (1), p.138-143

2016

Link zum Volltext

Verfügbarkeit prüfen

Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome

Genes, 2024-06, Vol.15 (7), p.822

2024

Link zum Volltext

Verfügbarkeit prüfen

Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y 12 deficiencies

Haematologica (Roma), 2020-07, Vol.105 (7), p.e361

2020

Link zum Volltext

Verfügbarkeit prüfen

A Novel IKCNN2/I Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis

Genes, 2023-06, Vol.14 (7)

2023

Link zum Volltext

Verfügbarkeit prüfen

A Report on a Targeted Screening Population for Alpha-1-Antitrypsin Deficiency (AATD) in Central-Southern Italy

Archivos de bronconeumología (English ed.), 2024-05

2024

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 70

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(64)
Mit Volltextzugriff
(63)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(51)
Life Sciences & Biomedicine
(47)
Humans
(37)
Mutation
(23)
Hematology
(20)
Male
(18)
Female
(15)
Adult
(13)
Italy
(12)
Biological And Medical Sciences
(11)
Cardiovascular System & Cardiology
(11)
Medical Sciences
(10)
Middle Aged
(10)
Genes
(9)
Peripheral Vascular Disease
(9)
Hematologic And Hematopoietic Diseases
(8)
Phenotype
(8)
Dna Mutational Analysis
(7)
Genetics
(7)
Platelet Diseases And Coagulopathies
(7)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(5)

Menü

Weitere Dienste

Einstellungen

Mutation of Angiopoietin-1 Gene Associates with a New Type of Hereditary Angioedema

The Role of Genetics in the Management of Heart Failure Patients

The Genetics of Hereditary Angioedema: A Review

A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis

Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria

A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis

The risk of occurrence of venous thrombosis: focus on protein Z

The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype

Use of Catridecacog in a patient with severe Factor XIII deficiency undergoing surgery

A myoferlin gain‐of‐function variant associates with a new type of hereditary angioedema

Angiopoietin‐1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema

DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology

A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin

Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia a in southern Italy

Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group

416 DESMOPLAKIN CARDIOMYOPATHY PRESENTING WITH CARDIAC ARREST IN A PATIENT WITH MYOCARDIAL NON-COMPACTION AND LEFT ACCESSORY PATHWAY

A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (α2-antiplasmin) deficiency in an Italian patient

Analysis of Clinically Relevant Single-Nucleotide Polymorphisms by Use of Microelectronic Array Technology

Genome‐Wide Association Study Identifies First Locus Associated with Susceptibility to Cerebral Venous Thrombosis

ABCB1 SNP rs4148738 Modulation of Apixaban Interindividual Variability

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU

Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome

Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y 12 deficiencies

A Novel IKCNN2/I Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis

A Report on a Targeted Screening Population for Alpha-1-Antitrypsin Deficiency (AATD) in Central-Southern Italy

Suchergebnisse filtern