E-LIB Suche - Ergebnisse für: Bournazos, Adam

1

RNA variant assessment using transactivation and transdiffe..:

Nicolas-Martinez, Emmylou C. ; Robinson, Olivia ; Pflueger, Christian...
The American Journal of Human Genetics. 111 (2024) 8 - p. 1673-1699 , 2024

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

2

A genetic basis is identified in 74% cases of paediatric hy..:

Wong, Wui-Kwan ; Bryen, Samantha J ; Bournazos, Adam...
Neuromuscular Disorders. 32 (2022) 9 - p. 707-717 , 2022

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

3

Rapid exome sequencing and adjunct rna studies confirm path..:

Akesson, Lauren S. ; Bournazos, Adam ; Fennell, Andrew...
Pathology. 52 (2020) - p. S106 , 2020

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

4

Two novel B9D1 variants causing Joubert syndrome: Utility o..:

Katiyar, Disha ; Anderson, Neil ; Bommireddipalli, Shobhana...
European Journal of Medical Genetics. 63 (2020) 9 - p. 104000 , 2020

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

5

Importance of muscle biopsy to establish pathogenicity of D..:

Jones, Hannah F ; Bryen, Samantha J ; Waddell, Leigh B...
Neuromuscular Disorders. 29 (2019) 12 - p. 913-919 , 2019

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

6

Translating Technical Innovations for Splicing Diagnostics ..:

Bournazos, Adam ; Riley, Lisa G. ; Bryen, Samantha J....
Pathology. 51 (2019) - p. S35 , 2019

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

7

Congenital Titinopathy: Comprehensive characterization and ..:

Oates, Emily C. ; Jones, Kristi J. ; Donkervoort, Sandra...
Annals of Neurology. 83 (2018) 6 - p. 1105-1124 , 2018

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

8

Limited proteolysis as a tool to probe the tertiary conform..:

Woolger, Natalie ; Bournazos, Adam ; Sophocleous, Reece A....
Journal of Biological Chemistry. 292 (2017) 45 - p. 18577-18591 , 2017

Link: https://doi.org/10.1074/..

9

Enzymatic cleavage of myoferlin releases a dual C2-domain m..:

Piper, Ann-Katrin ; Ross, Samuel E. ; Redpath, Gregory M....
Cellular Signalling. 33 (2017) - p. 30-40 , 2017

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

10

Lack of MG53 in human heart precludes utility as a biomarke..:

Lemckert, Frances A. ; Bournazos, Adam ; Eckert, Daniel M....
Cardiovascular Research. 110 (2016) 2 - p. 178-187 , 2016

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

11

Cortar: quantifying and reporting variant associated mis-sp..:

Marchant, Rhett G. ; Bournazos, Adam M. ; Joshi, Himanshu.
Pathology. 56 (2024) - p. S21 , 2024

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

12

Unraveling facets of MECOM-associated syndrome: somatic gen..:

Venugopal, Parvathy ; Arts, Peer ; Fox, Lucy C....
Blood Advances. 8 (2024) 13 - p. 3437-3443 , 2024

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

13

Minimal expression of dysferlin prevents development of dys..:

Yasa, Joe ; Reed, Claudia E. ; Bournazos, Adam M....
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023

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

14

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome ..:

Van Bergen, Nicole J. ; Gunanayagam, Karen ; Bournazos, Adam M....
International Journal of Molecular Sciences. 24 (2023) 4 - p. 3582 , 2023

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

15

SpliceVault predicts the precise nature of variant-associat..:

Dawes, Ruebena ; Bournazos, Adam M. ; Bryen, Samantha J....
Nature Genetics. 55 (2023) 2 - p. 324-332 , 2023

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