E-LIB Suche - Ergebnisse für: Ellmers, Rebecca

1

Prevalence of genetically confirmed skeletal muscle channel..:

Vivekanandam, Vinojini ; Jaibaji, Rawan ; Sud, Richa...
Neuromuscular Disorders. 33 (2023) 3 - p. 270-273 , 2023

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

2

In silico versus functional characterization of genetic var..:

Vivekanandam, Vinojini ; Ellmers, Rebecca ; Jayaseelan, Dipa...
Brain. 146 (2022) 4 - p. 1316-1321 , 2022

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

3

Specialist multidisciplinary input maximises rare disease d..:

Macken, William L. ; Falabella, Micol ; McKittrick, Caroline...
Nature Communications. 13 (2022) 1 - p. , 2022

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

4

Cholestasis Due to USP53 Deficiency:

Bull, Laura N. ; Ellmers, Rebecca ; Foskett, Pierre...
Journal of Pediatric Gastroenterology & Nutrition. 72 (2020) 5 - p. 667-673 , 2020

Link: https://doi.org/10.1097/..

5

In silico versus functional characterization of genetic var..:

Vivekanandam, Vinojini ; Ellmers, Rebecca ; Jayaseelan, Dipa...
https://discovery.ucl.ac.uk/id/eprint/10160318/1/awac431.pdf. , 2022

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

6

Specialist multidisciplinary input maximises rare disease d..:

Macken, William L ; Falabella, Micol ; McKittrick, Caroline...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9640711/. , 2022

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

7

Specialist multidisciplinary input maximises rare disease d..:

Macken, William L ; Falabella, Micol ; McKittrick, Caroline...
https://discovery.ucl.ac.uk/id/eprint/10159376/1/s41467-022-32908-7.pdf. , 2022

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

8

Cholestasis Due to USP53 Deficiency:

Bull, Laura N ; Ellmers, Rebecca ; Foskett, Pierre...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8549450/. , 2021

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

9

Cholestasis Due to USP53 Deficiency:

Bull, Laura N ; Ellmers, Rebecca ; Foskett, Pierre...
Bull , L N , Ellmers , R , Foskett , P , Strautnieks , S , Sambrotta , M , Czubkowski , P , Jankowska , I , Wagner , B , Deheragoda , M & Thompson , R J 2021 , ' Cholestasis Due to USP53 Deficiency ' , Journal of pediatric gastroenterology and nutrition , vol. 72 , no. 5 , pp. 667-673 . https://doi.org/10.1097/MPG.0000000000002926. , 2021

Link: https://kclpure.kcl.ac.u..

10

Cholestasis Due to USP53 Deficiency:

Bull, Laura N ; Ellmers, Rebecca ; Foskett, Pierre...
Bull , L N , Ellmers , R , Foskett , P , Strautnieks , S , Sambrotta , M , Czubkowski , P , Jankowska , I , Wagner , B , Deheragoda , M & Thompson , R J 2021 , ' Cholestasis Due to USP53 Deficiency ' , Journal of pediatric gastroenterology and nutrition , vol. 72 , no. 5 , pp. 667-673 . https://doi.org/10.1097/MPG.0000000000002926. , 2021

Link: https://kclpure.kcl.ac.u..

11

Specialist multidisciplinary input maximises rare disease d..:

William L. Macken ; Micol Falabella ; Caroline McKittrick...
https://doi.org/10.1038/s41467-022-32908-7. , 2022

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

12

We should be screening for benign paroxysmal positional ver..:

Li, Yuxiao ; Smith, Rebecca M ; Whitney, Susan L..
Age and Ageing. 52 (2023) 11 - p. , 2023

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