Suchergebnisse - "Westbury, Sarah K"

PubPharm (44)

1

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

enthalten in: bioRxiv.org | 2023

von Cipriani, V. | Vestito, L. | Magavern, E. | +58

2

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

enthalten in: medRxiv : the preprint server for health sciences | 2023

von Cipriani, V. | Vestito, L. | Magavern, E. | +58

3

Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA

enthalten in: American journal of human genetics | 2023

von Xiao, S. | Kai, Z. | Murphy, D. | +12

4

Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome

enthalten in: Journal of thrombosis and haemostasis : JTH | 2022

von Penon-Portmann, M. | Westbury, S. | Li, L. | +17

5

Inherited platelet disorders : From new variants to new knowledge

enthalten in: British journal of haematology | 2022

von Pluthero, F. | Westbury, S. | Kahr, W.

6

Inherited platelet disorders : From new variants to new knowledge

enthalten in: British Journal of Haematology | 2022

von Pluthero, F. | Westbury, S. | Kahr, W.

7

Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome

enthalten in: Journal of Thrombosis and Haemostasis | 2022

von Penon‐Portmann, M. | Westbury, S. | Li, L. | +17

8

Haematology morphology teaching during the COVID-19 pandemic : a UK teaching hospital experience

enthalten in: Future healthcare journal | 2021

von Westbury, S. | Stewart, A.

9

FLNA variants associated with disorders of platelet number or function

enthalten in: Platelets | 2020

von Vassallo, P. | Westbury, S. | Mumford, A.

10

A new pedigree with thrombomodulin-associated coagulopathy in which delayed fibrinolysis is partially attenuated by co-inherited TAFI deficiency

enthalten in: Journal of thrombosis and haemostasis : JTH | 2020

von Westbury, S. | Whyte, C. | Stephens, J. | +11

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