E-LIB Suche - Ergebnisse für: Thomas, Huw B

1

Combining a prioritization strategy and functional studies ..:

Dueñas Rey, Alfredo ; del Pozo Valero, Marta ; Bouckaert, Manon...
Genome Medicine. 16 (2024) 1 - p. , 2024

2

Deep intronic variant causes aberrant splicing of ATP7A in ..:

Harkness, J. Robert ; Thomas, Huw B. ; Urquhart, Jill E....
European Journal of Medical Genetics. 67 (2024) - p. 104907 , 2024

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

3

Novel homozygous variants in PRORP expand the genotypic spe..:

Smith, Thomas B. ; Rea, Alessandro ; Thomas, Huw B....
European Journal of Human Genetics. 31 (2023) 10 - p. 1190-1194 , 2023

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

4

Bi-allelic FRA10AC1 variants in a multisystem human syndrom:

Banka, Siddharth ; Shalev, Stavit ; Park, Soo-Mi...
Brain. 145 (2022) 10 - p. e86-e89 , 2022

Link: https://doi.org/10.1093/..

5

Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in ..:

Wood, Katherine A. ; Ellingford, Jamie M. ; Eden, James...
Cardiogenetics. 11 (2021) 2 - p. 73-83 , 2021

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

6

Expanding the genotypic spectrum of TXNL4A variants in Burn..:

Wood, Katherine A. ; Ellingford, Jamie M. ; Thomas, Huw B....
Clinical Genetics. 101 (2021) 2 - p. 255-259 , 2021

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

7

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/..

8

Uncovering genetic mechanisms of hypertension through multi..:

Eales, James M. ; Jiang, Xiao ; Xu, Xiaoguang...
Nature Genetics. 53 (2021) 5 - p. 630-637 , 2021

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

9

EFTUD2missense variants disrupt protein function and splici..:

Thomas, Huw B. ; Wood, Katherine A. ; Buczek, Weronika A....
Human Mutation. 41 (2020) 8 - p. 1372-1382 , 2020

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

10

Modelling the developmental spliceosomal craniofacial disor..:

Wood, Katherine A. ; Rowlands, Charlie F. ; Thomas, Huw B....
PLOS ONE. 15 (2020) 7 - p. e0233582 , 2020

Link: https://doi.org/10.1371/..

11

Early B-cell Factor 3–Related Genetic Disease Can Mimic Uro..:

Harkness, J. Robert ; Beaman, Glenda M. ; Teik, Keng W....
Kidney International Reports. 5 (2020) 10 - p. 1823-1827 , 2020

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

12

A homozygous missense variant in CHRM3 associated with fami..:

Beaman, Glenda M. ; Galatà, Gabriella ; Teik, Keng W....
Clinical Genetics. 96 (2019) 6 - p. 515-520 , 2019

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

13

Gene Cloning for the Analysis of Gene Expression:

, In: Biomolecular and Bioanalytical Techniques,

Thomas, Huw B. ; O'Keefe, Raymond T. - p. 59-80 , 2019

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

14

Disease modeling of core pre-mRNA splicing factor haploinsu..:

Wood, Katherine A ; Rowlands, Charlie F ; Qureshi, Wasay Mohiuddin Shaikh...
Human Molecular Genetics. 28 (2019) 22 - p. 3704-3723 , 2019

Link: https://doi.org/10.1093/..

15

Heparin derivatives for the targeting of multiple activitie..:

Veraldi, Noemi ; Hughes, Ashley J. ; Rudd, Timothy R....
Carbohydrate Polymers. 117 (2015) - p. 400-407 , 2015

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