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...

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

Haematologica (Roma), 2016-11, Vol.101 (11), p.1306-1318

2016

Volltextzugriff (PDF)

Mitigating land degradation caused by wildfire: Application of the PESERA model to fire-affected sites in central Portugal

Geoderma, 2012-12, Vol.191, p.40-50

2012

Volltextzugriff (PDF)

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Nature genetics, 2015-07, Vol.47 (7), p.717-726

2015

Volltextzugriff (PDF)

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

Human mutation, 2022-08, Vol.43 (8), p.1089-1096

2022

Volltextzugriff (PDF)

Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

Human mutation, 2014-01, Vol.35 (1), p.15-26

2014

Volltextzugriff (PDF)

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Blood, 2018-08, Vol.132 (5), p.469-483

2018

Volltextzugriff (PDF)

Evidence for epistasis between SLC6a4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels

Human genetics, 2007-04, Vol.121 (2), p.243-256

2007

Volltextzugriff (PDF)

JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients

International journal of hematology, 2014, Vol.99 (1), p.32-40

2014

Volltextzugriff (PDF)

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)?)

European journal of haematology, 2013-10, Vol.91 (4), p.361-368

2013

Volltextzugriff (PDF)

Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients

Haematologica (Roma), 2005-01, Vol.90 (1), p.128-129

2005

Volltextzugriff (PDF)

The European Hematology Association Roadmap for European Hematology Research: a consensus document

Haematologica (Roma), 2016-02, Vol.101 (2), p.115-208

2016

Volltextzugriff (PDF)

Erythrocytosis associated with a novel missense mutation in the BPGM gene

Haematologica (Roma), 2014-10, Vol.99 (10), p.e201-e204

2014

Volltextzugriff (PDF)

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Genome medicine, 2023-11, Vol.15 (1), p.94-25, Article 94

2023

Volltextzugriff (PDF)

Serotype 3 Remains the Leading Cause of Invasive Pneumococcal Disease in Adults in Portugal (2012-2014) Despite Continued Reductions in Other 13-Valent Conjugate Vaccine Serotypes

Frontiers in microbiology, 2016-10, Vol.7, p.1616-1616

2016

Volltextzugriff (PDF)

A novel haemoglobin variant mimicking cyanotic congenital heart disease

BMJ case reports, 2016-01, Vol.2016, p.bcr2015213615

2016

Volltextzugriff (PDF)

Streptococcus pyogenes Causing Skin and Soft Tissue Infections Are Enriched in the Recently Emerged emm89 Clade 3 and Are Not Associated With Abrogation of CovRS

Frontiers in microbiology, 2018-10, Vol.9, p.2372-2372

2018

Volltextzugriff (PDF)

Autoantibody repertoires to brain tissue in autism nuclear families

Journal of neuroimmunology, 2004-07, Vol.152 (1), p.176-182

2004

Volltextzugriff (PDF)

Intragenic haplotype analysis of common HFE mutations in the Portuguese population

Journal of genetics, 2015-06, Vol.94 (2), p.329-333

2015

Volltextzugriff (PDF)

The use of capillary blood samples in a large scale screening approach for the detection of beta-thalassemia and hemoglobin variants

Haematologica (Roma), 2006-11, Vol.91 (11), p.1565-1565

2006

Volltextzugriff (PDF)

Limiting the soil degradational impacts of wildfire in pine and eucalyptus forests in Portugal

Applied geography (Sevenoaks), 1996-10, Vol.16 (4), p.337-355

1996

Volltextzugriff (PDF)

Intersociety guidelines for diagnosis, treatment and prevention of Clostridioides difficile infections

Medicina, 2020, Vol.80 Suppl 1, p.1

2020

Volltextzugriff (PDF)

1 – 24 von 24

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(23)
Mit Volltextzugriff
(19)

Publikationsform

Artikel
(24)

Sprache

Englisch
(23)
Spanisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

Evaluation of in silico predictors on short nucleotide variants in HBA1 , HBA2 , and HBB associated with haemoglobinopathies

Mitigating land degradation caused by wildfire: Application of the PESERA model to fire-affected sites in central Portugal

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Evidence for epistasis between SLC6a4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels

JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients

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)?)

Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients

The European Hematology Association Roadmap for European Hematology Research: a consensus document

Erythrocytosis associated with a novel missense mutation in the BPGM gene

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Serotype 3 Remains the Leading Cause of Invasive Pneumococcal Disease in Adults in Portugal (2012-2014) Despite Continued Reductions in Other 13-Valent Conjugate Vaccine Serotypes

A novel haemoglobin variant mimicking cyanotic congenital heart disease

Streptococcus pyogenes Causing Skin and Soft Tissue Infections Are Enriched in the Recently Emerged emm89 Clade 3 and Are Not Associated With Abrogation of CovRS

Autoantibody repertoires to brain tissue in autism nuclear families

Intragenic haplotype analysis of common HFE mutations in the Portuguese population

First Achievements of MPN&MPNr-EuroNet (COST Action BM0902), a New European Network Dedicated to the Diagnosis of Myeloproliferative Neoplasms and Hereditary Erythrocytosis and Thrombocytosis

The use of capillary blood samples in a large scale screening approach for the detection of beta-thalassemia and hemoglobin variants

Limiting the soil degradational impacts of wildfire in pine and eucalyptus forests in Portugal

Intersociety guidelines for diagnosis, treatment and prevention of Clostridioides difficile infections

Suchergebnisse filtern