E-LIB Suche - Ergebnisse für: Shovlin, Claire L.

1

Mutations causing premature termination codons discriminate..:

Bernabéu-Herrero, Maria E. ; Patel, Dilipkumar ; Bielowka, Adrianna...
Blood. 143 (2024) 22 - p. 2314-2331 , 2024

Link: https://doi.org/10.1182/..

2

Integration of genotypic data into clinical trial design an..:

Modarresi, Atieh ; Shovlin, Claire L.
Haematologica. , 2024

Link: https://doi.org/10.3324/..

3

Specifications of the ACMG/AMP Variant Curation Guidelines ..:

DeMille, Desiree ; McDonald, Jamie ; Bernabeu, Carmelo...
Human Mutation. 2024 (2024) - p. 1-13 , 2024

Link: https://doi.org/10.1155/..

4

Functional filter for whole-genome sequencing data identifi..:

Xiao, Sihao ; Kai, Zhentian ; Murphy, Daniel...
The American Journal of Human Genetics. 110 (2023) 11 - p. 1903-1918 , 2023

Link: https://doi.org/10.1016/..

5

Pharmacogenomic Considerations for Anticoagulant Prescripti..:

McCarley, Sarah ; Murphy, Daniel ; Thompson, Jack.
Journal of Clinical Medicine. 12 (2023) 24 - p. 7710 , 2023

Link: https://doi.org/10.3390/..

6

Unsupervised machine learning algorithms identify expected ..:

Mukhtar, Ghazel ; Shovlin, Claire L.
eJHaem. 4 (2023) 3 - p. 602-611 , 2023

Link: https://doi.org/10.1002/..

7

Iron deficiency responses and integrated compensations in p..:

Sharma, Lakshya ; Almaghlouth, Fatma ; Mckernan, Heidi...
Haematologica. 109 (2023) 3 - p. 958-962 , 2023

Link: https://doi.org/10.3324/..

8

MEK 1 inhibition and bleeding in hereditary haemorrhagic te..:

Shovlin, Claire L. ; Patel, Dilip ; Bielowka, Adrianna...
British Journal of Haematology. 204 (2023) 1 - p. 361-365 , 2023

Link: https://doi.org/10.1111/..

9

Updates on diagnostic criteria for hereditary haemorrhagic ..:

Shovlin, Claire L ; Almaghlouth, Fatma I ; Alsafi, Ali...
Journal of Medical Genetics. 61 (2023) 2 - p. 182-185 , 2023

Link: https://doi.org/10.1136/..

10

Comment on Kilian et al. Comparing Characteristics and Trea..:

Eker, Omer F. ; Dupuis-Girod, Sophie ; Shovlin, Claire L..
Journal of Clinical Medicine. 12 (2023) 22 - p. 7179 , 2023

Link: https://doi.org/10.3390/..

11

Pathogenic Variant Frequencies in Hereditary Haemorrhagic T..:

Jain, Kinshuk ; McCarley, Sarah C. ; Mukhtar, Ghazel...
Journal of Clinical Medicine. 13 (2023) 1 - p. 250 , 2023

Link: https://doi.org/10.3390/..

12

Pulmonary arteriovenous malformations may be the only clini..:

Anderson, Emily ; Sharma, Lakshya ; Alsafi, Ali.
Thorax. 77 (2022) 6 - p. 628-630 , 2022

Link: https://doi.org/10.1136/..

13

Whole genome sequences discriminate hereditary hemorrhagic ..:

Joyce, Katie E. ; Onabanjo, Ebun ; Brownlow, Sheila...
Blood Advances. 6 (2022) 13 - p. 3956-3969 , 2022

Link: https://doi.org/10.1182/..

14

Ischemic Stroke and Pulmonary Arteriovenous Malformations: ..:

Topiwala, Karan K. ; Patel, Smit D. ; Saver, Jeffrey L...
Neurology. 98 (2022) 5 - p. 188-198 , 2022

Link: https://doi.org/10.1212/..

15

European Reference Network for Rare Vascular Diseases (VASC..:

Dupuis-Girod, Sophie ; Shovlin, Claire L. ; Kjeldsen, Anette D....
European Journal of Medical Genetics. 65 (2022) 10 - p. 104575 , 2022

Link: https://doi.org/10.1016/..