E-LIB Suche - Ergebnisse für: Ramsbottom, Simon A.

1

Update of genetic variants in CEP120 and CC2D2A—With an emp..:

Barroso‐Gil, Miguel ; Olinger, Eric ; Ramsbottom, Simon A....
Molecular Genetics & Genomic Medicine. 9 (2021) 12 - p. , 2021

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

2

Mouse genetics reveals Barttin as a genetic modifier of Jou..:

Ramsbottom, Simon A. ; Thelwall, Peter E. ; Wood, Katrina M....
Proceedings of the National Academy of Sciences of the United States of America. 117 (2020) 2 - p. 1113-1118 , 2020

Link: https://www.jstor.org/st..

3

Mouse genetics reveals Barttin as a genetic modifier of Jou..:

Ramsbottom, Simon A. ; Thelwall, Peter E. ; Wood, Katrina M....
Proceedings of the National Academy of Sciences. 117 (2019) 2 - p. 1113-1118 , 2019

Link: https://doi.org/10.1073/..

4

Targeted exon skipping rescues ciliary protein composition ..:

Molinari, Elisa ; Ramsbottom, Simon A. ; Srivastava, Shalabh...
Scientific Reports. 9 (2019) 1 - p. , 2019

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

5

A CEP104-CSPP1 Complex Is Required for Formation of Primary..:

Frikstad, Kari-Anne M. ; Molinari, Elisa ; Thoresen, Marianne...
Cell Reports. 28 (2019) 7 - p. 1907-1922.e6 , 2019

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

6

Targeted exon skipping of a CEP290 mutation rescues Joubert..:

Ramsbottom, Simon A. ; Molinari, Elisa ; Srivastava, Shalabh...
Proceedings of the National Academy of Sciences of the United States of America. 115 (2018) 49 - p. 12489-12494 , 2018

Link: https://www.jstor.org/st..

7

Targeted exon skipping of aCEP290mutation rescues Joubert s..:

Ramsbottom, Simon A. ; Molinari, Elisa ; Srivastava, Shalabh...
Proceedings of the National Academy of Sciences. 115 (2018) 49 - p. 12489-12494 , 2018

Link: https://doi.org/10.1073/..

8

Using zebrafish to study the function of nephronophthisis a..:

Molinari, Elisa ; Ramsbottom, Simon A. ; Sammut, Veronica..
F1000Research. 7 (2018) - p. 1133 , 2018

Link: https://doi.org/10.12688..

9

Human urine-derived renal epithelial cells provide insights..:

Molinari, Elisa ; Decker, Eva ; Mabillard, Holly...
European Journal of Human Genetics. 26 (2018) 12 - p. 1791-1796 , 2018

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

10

Using zebrafish to study the function of nephronophthisis a..:

Molinari, Elisa ; Ramsbottom, Simon A. ; Sammut, Veronica..
F1000Research. 7 (2018) - p. 1133 , 2018

Link: https://doi.org/10.12688..

11

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary..:

Alkanderi, Sumaya ; Molinari, Elisa ; Shaheen, Ranad...
The American Journal of Human Genetics. 103 (2018) 4 - p. 612-620 , 2018

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

12

From disease modelling to personalised therapy in patients ..:

Molinari, Elisa ; Srivastava, Shalabh ; Sayer, John A..
F1000Research. 6 (2017) - p. 669 , 2017

Link: https://doi.org/10.12688..

13

A novel homozygous UMOD mutation reveals gene dosage effect..:

Edwards, Noel ; Olinger, Eric ; Adam, Jennifer...
Nephrology Dialysis Transplantation. 32 (2017) 12 - p. 1994-1999 , 2017

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

14

A human patient-derived cellular model of Joubert syndrome ..:

Srivastava, Shalabh ; Ramsbottom, Simon A ; Molinari, Elisa...
Human Molecular Genetics. 26 (2017) 23 - p. 4657-4667 , 2017

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

15

Regulation of Hedgehog Signalling Inside and Outside the Ce..:

Ramsbottom, Simon ; Pownall, Mary
Journal of Developmental Biology. 4 (2016) 3 - p. 23 , 2016

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