E-LIB Suche - Ergebnisse für: O'Keefe, Raymond

1

A KRAS-responsive long non-coding RNA controls microRNA pro..:

Shi, Lei ; Magee, Peter ; Fassan, Matteo...
Nature Communications. 12 (2021) 1 - p. , 2021

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

2

Assessment of Disease-Associated Missense Variants in RYR2 ..:

Olubando, Damilola ; Thomas, Huw ; Horie, Minoru...
Cardiogenetics. 10 (2020) 1 - p. 8637 , 2020

Link: https://doi.org/10.4081/..

3

Principles and Applications of Broadband Acoustic Resonance..:

Fitzpatrick, Dara ; Krüse, Jacob ; Vos, Bastiaan...
Analytical Chemistry. 84 (2012) 5 - p. 2202-2210 , 2012

Link: https://doi.org/10.1021/..

4

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/..

5

Combining a prioritization strategy and functional studies ..:

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

Link: https://doi.org/10.1186/..

6

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/..

7

Global mapping of RNA homodimers in living cells:

Gabryelska, Marta M. ; Badrock, Andrew P. ; Lau, Jian You...
Genome Research. , 2022

Link: https://doi.org/10.1101/..

8

Eisosome disruption by noncoding RNA deletion increases pro..:

Feng, Matthew Wenjie ; Delneri, Daniela ; Millar, Catherine B..
PNAS Nexus. 1 (2022) 5 - p. , 2022

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

9

MRSD: A quantitative approach for assessing suitability of ..:

Rowlands, Charlie F. ; Taylor, Algy ; Rice, Gillian...
The American Journal of Human Genetics. 109 (2022) 2 - p. 210-222 , 2022

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

10

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/..

11

Homozygous missense variants in BMPR15 can result in primar..:

Demain, Leigh A.M. ; Metcalfe, Kay ; Boetje, Eline...
Reproductive BioMedicine Online. 45 (2022) 4 - p. 727-729 , 2022

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

12

Biallelic loss of function variants in STAG3 result in prim..:

Demain, Leigh A.M. ; Boetje, Eline ; Edgerley, Jonathan J....
Reproductive BioMedicine Online. 43 (2021) 5 - p. 899-902 , 2021

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

13

New insights into Perrault syndrome, a clinically and genet..:

Faridi, Rabia ; Rea, Alessandro ; Fenollar-Ferrer, Cristina...
Human Genetics. , 2021

Link: https://doi.org/10.1007/..

14

Functional and transcriptional profiling of non-coding RNAs..:

Balarezo-Cisneros, Laura Natalia ; Parker, Steven ; Fraczek, Marcin G....
PLOS Genetics. 17 (2021) 1 - p. e1008761 , 2021

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

15

The Role of the U5 snRNP in Genetic Disorders and Cancer:

Wood, Katherine A. ; Eadsforth, Megan A. ; Newman, William G..
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..