UB Paderborn / Katalog / Suche / in CDI

1 – 24 von 24

Sortiert nach

Implementation of individualised polygenic risk score analysis: a test case of a family of four

BMC medical genomics, 2022-10, Vol.15 (Suppl 3), p.1-207, Article 207

2022

Volltextzugriff (PDF)

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

HGG advances, 2022-07, Vol.3 (3), p.100113-100113, Article 100113

2022

Volltextzugriff (PDF)

Whole Genome Interpretation for a Family of Five

Frontiers in genetics, 2021-03, Vol.12, p.535123-535123

2021

Volltextzugriff (PDF)

De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family

Platelets (Edinburgh), 2019-10, Vol.30 (7), p.931-934

2019

Volltextzugriff (PDF)

Comparative Genomics Allows the Discovery of Cis-Regulatory Elements in Mosquitoes

Proceedings of the National Academy of Sciences - PNAS, 2009-03, Vol.106 (9), p.3053-3058

2009

Volltextzugriff (PDF)

ArrayExpress update--simplifying data submissions

Nucleic acids research, 2015-01, Vol.43 (Database issue), p.D1113

2015

Volltextzugriff (PDF)

Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

Journal of thrombosis and haemostasis, 2019-08, Vol.17 (8), p.1253-1260

2019

Volltextzugriff (PDF)

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis

Journal of thrombosis and haemostasis, 2021-10, Vol.19 (10), p.2612-2617

2021

Volltextzugriff (PDF)

Moving ＂Forward＂ in Plasmodium Genetics through a Transposon-Based Approach

Journal of Tropical Medicine, 2012-01, Vol.2012, p.829210-7

2012

Volltextzugriff (PDF)

Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia

Blood, 2020-11, Vol.136 (Supplement 1), p.34-35

2020

Volltextzugriff (PDF)

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

American journal of human genetics, 2023-08, Vol.110 (8), p.1343-1355

2023

Volltextzugriff (PDF)

Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021 Oct;19(10):2612-2617]

Journal of thrombosis and haemostasis, 2023-04, Vol.21 (4), p.1067-1067

2023

Volltextzugriff (PDF)

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

American journal of respiratory and critical care medicine, 2022-12, Vol.206 (12), p.1522-1533

2022

Volltextzugriff (PDF)

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

Pediatric nephrology (Berlin, West), 2022-11, Vol.37 (11), p.2643-2656

2022

Volltextzugriff (PDF)

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Blood, 2020-10, Vol.136 (17), p.1956-1967

2020

Volltextzugriff (PDF)

Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework

Journal of thrombosis and haemostasis, 2024-03, Vol.22 (3), p.645-665

2024

Volltextzugriff (PDF)

First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

American journal of respiratory and critical care medicine, 2022-12, Vol.206 (12), p.1522-1533

2022

Volltextzugriff (PDF)

Effectiveness and costs of a stepwise versus an all‐in‐one approach to diagnose mild bleeding disorders

British journal of haematology, 2023-03, Vol.200 (6), p.792-801

2023

Volltextzugriff (PDF)

Multiparameter platelet function analysis of bleeding patients with a prolonged platelet function analyser closure time

British journal of haematology, 2022-03, Vol.196 (6), p.1388-1400

2022

Volltextzugriff (PDF)

αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

Proceedings of the National Academy of Sciences - PNAS, 2015-04, Vol.112 (15), p.E1898-E1907

2015

Volltextzugriff (PDF)

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Blood, 2020-10, Vol.136 (17), p.1956-1967

2020

Volltextzugriff (PDF)

Development and validation of a universal blood donor genotyping platform: a multinational prospective study

Blood advances, 2020-08, Vol.4 (15), p.3495-3506

2020

Volltextzugriff (PDF)

Investigating genotype–phenotype relationship of extreme neuropathic pain disorders in a UK national cohort

Brain communications, 2023, Vol.5 (2), p.fcad037-fcad037

2023

Volltextzugriff (PDF)

1 – 24 von 24

Suche als RSS-Feed

Aktive Filter

ThemaMale

PublikationsformArtikel

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(24)
Mit Volltextzugriff
(21)

Sprache

Englisch
(24)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Implementation of individualised polygenic risk score analysis: a test case of a family of four

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

Whole Genome Interpretation for a Family of Five

De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family

Comparative Genomics Allows the Discovery of Cis-Regulatory Elements in Mosquitoes

ArrayExpress update--simplifying data submissions

Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis

Moving ＂Forward＂ in Plasmodium Genetics through a Transposon-Based Approach

Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021 Oct;19(10):2612-2617]

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework

First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

Effectiveness and costs of a stepwise versus an all‐in‐one approach to diagnose mild bleeding disorders

Multiparameter platelet function analysis of bleeding patients with a prolonged platelet function analyser closure time

αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Development and validation of a universal blood donor genotyping platform: a multinational prospective study

Investigating genotype–phenotype relationship of extreme neuropathic pain disorders in a UK national cohort

Aktive Filter

Suchergebnisse filtern