E-LIB Suche - Ergebnisse für: Hardcastle, Claire

1

Using computational approaches to enhance the interpretatio..:

Andhika, Nadya S. ; Biswas, Susmito ; Hardcastle, Claire...
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

2

The Role of Genetic Testing in Children Requiring Surgery f..:

Musleh, Mohammud ; Bull, Adam ; Linton, Emma...
Genes. 14 (2023) 4 - p. 791 , 2023

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

3

EyeG2P: an automated variant filtering approach improves ef..:

Lenassi, Eva ; Carvalho, Ana ; Thormann, Anja...
Journal of Medical Genetics. 60 (2023) 8 - p. 810-818 , 2023

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

4

Assessing the Pathogenicity of In-Frame CACNA1F Indel Varia..:

Sallah, Shalaw R. ; Sergouniotis, Panagiotis I. ; Hardcastle, Claire...
The Journal of Molecular Diagnostics. 24 (2022) 12 - p. 1232-1239 , 2022

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

5

Embryonal sarcoma of the liver in a girl with Cockayne synd..:

Thorbinson, Colin ; Penn, Anthony ; Nicola, Pantelis...
Clinical Genetics. 101 (2021) 3 - p. 375-376 , 2021

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

6

Comparison of in silico strategies to prioritize rare genom..:

Rowlands, Charlie ; Thomas, Huw B. ; Lord, Jenny...
Scientific Reports. 11 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

7

Correction: Clinical utility of genetic testing in 201 pres..:

Lenassi, Eva ; Clayton-Smith, Jill ; Douzgou, Sofia...
Genetics in Medicine. 23 (2021) 10 - p. 2023 , 2021

Link: https://doi.org/10.1038/..

8

Clinical utility of genetic testing in 201 preschool childr..:

Lenassi, Eva ; Clayton-Smith, Jill ; Douzgou, Sofia...
Genetics in Medicine. 22 (2020) 4 - p. 745-751 , 2020

Link: https://doi.org/10.1038/..

9

Diagnostic yield of panel-based genetic testing in syndromi..:

UK Inherited Retinal Disease Consortium ; Jiman, Omamah A. ; Taylor, Rachel L....
European Journal of Human Genetics. 28 (2019) 5 - p. 576-586 , 2019

Link: https://doi.org/10.1038/..

10

The Role of Genetic Testing in Children Requiring Surgery f..:

Musleh, Mohammud ; Bull, Adam ; Linton, Emma...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137664/. , 2023

Link: http://www.ncbi.nlm.nih...

11

EyeG2P: an automated variant filtering approach improves ef..:

Lenassi, Eva ; Carvalho, Ana ; Thormann, Anja...
https://discovery.ucl.ac.uk/id/eprint/10163851/1/jmg-2022-108618.full.pdf. , 2023

Link: https://discovery.ucl.ac..

12

EyeG2P: an automated variant filtering approach improves ef..:

Lenassi, Eva ; Carvalho, Ana ; Thormann, Anja...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10423522/. , 2023

Link: http://www.ncbi.nlm.nih...

13

Embryonal sarcoma of the liver in a girl with Cockayne Synd..:

Thorbinson, Colin ; Penn, Anthony ; Nicola, Pantelis...
Thorbinson , C , Penn , A , Nicola , P , Hardcastle , C L , Waller , S , Ramsden , S , Coorens , T H H , Tang , V , Cheesman , E , Douzgou , S & Meyer , S 2022 , ' Embryonal sarcoma of the liver in a girl with Cockayne Syndrome ' , Clinical Genetics .. , 2022

Link: https://research.manches..

14

Comparison of in silico strategies to prioritize rare genom..:

Rowlands, Charlie ; Thomas, Huw B ; Lord, Jenny...
https://chesterrep.openrepository.com/bitstream/handle/10034/626124/41598_2021_Article_99747.pdf?sequence=2. , 2021

Link: http://hdl.handle.net/10..

15

Comparison of in silico strategies to prioritize rare genom..:

Rowlands, Charlie ; Thomas, Huw B ; Lord, Jenny...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8523691/. , 2021

Link: http://www.ncbi.nlm.nih...