Suchergebnisse - "Megy, Karyn"

PubPharm (28)

1

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

enthalten in: Blood | 2023

von Stefanucci, L. | Collins, J. | Sims, M. | +32

CommentIn: Blood. 2023 Dec 14;142(24):2037-2038. - PMID 38095926

2

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

enthalten in: American journal of human genetics | 2023

von Sanchis-Juan, A. | Megy, K. | Stephens, J. | +29

3

Practical challenges for functional validation of STAT1 gain of function genetic variants

enthalten in: Clinical and experimental immunology | 2023

von Albuquerque, A. | Maimaris, J. | McKenna, A. | +109

4

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

enthalten in: American journal of respiratory and critical care medicine | 2022

von Prapa, M. | Lago-Docampo, M. | Swietlik, E. | +40

CommentIn: Am J Respir Crit Care Med. 2022 Dec 15;206(12):1448-1449. - PMID 35925028

5

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

enthalten in: Pediatric nephrology (Berlin, Germany) | 2022

von Bierzynska, A. | Bull, K. | Miellet, S. | +21

6

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

enthalten in: BMC medical genomics | 2022

von Corpas, M. | Megy, K. | Metastasio, A. | +1

7

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

enthalten in: British journal of haematology | 2022

von Heubel-Moenen, F. | Brouns, S. | Herfs, L. | +10

8

Advances in understanding the pathogenesis of hereditary macrothrombocytopenia

enthalten in: British journal of haematology | 2021

von Collins, J. | Astle, W. | Megy, K. | +2

9

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

enthalten in: Journal of thrombosis and haemostasis : JTH | 2021

von Megy, K. | Downes, K. | Morel-Kopp, M. | +13

ErratumIn: J Thromb Haemost. 2023 Apr;21(4):1067. - PMID 36737374

10

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

enthalten in: Blood | 2020

von Shovlin, C. | Simeoni, I. | Downes, K. | +14