E-LIB Suche - Ergebnisse für: Williamson, Kathleen K.A

1

Recurrent heterozygous PAX6 missense variants cause severe ..:

Williamson, Kathleen K.A ; Hall, Hildegard Nikki ; Owen, Liusaidh L.J...
uri/info:doi/10.1038/s41436-019-0685-9. , 2019

Link: http://hdl.handle.net/20..

2

A Restricted Repertoire of de Novo Mutations in ITPR1 Cause..:

McEntagart, Meriel ; Rainger, Joe ; Dixit, Abhijit...
uri/info:doi/10.1016/j.ajhg.2016.03.018. , 2016

Link: http://hdl.handle.net/20..

3

The UK10K project identifies rare variants in health and di..:

Walter, K. (Klaudia) ; Min, J.L. (Josine L.) ; Huang, J. (Jie)...
http://repub.eur.nl/pub/81634. , 2015

Link: http://repub.eur.nl/pub/..

4

EVI1 carboxy-terminal phosphorylation is ATM-mediated and s..:

Paredes, Roberto ; Schneider, Marion ; Stevens, Adam...
Nucleic Acids Research. 46 (2018) 15 - p. 7662-7674 , 2018

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

5

A phase I study of intraperitoneal nanoparticulate paclitax..:

Williamson, Stephen K. ; Johnson, Gary A. ; Maulhardt, Holly A....
Cancer Chemotherapy and Pharmacology. 75 (2015) 5 - p. 1075-1087 , 2015

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

6

Correction: Corrigendum: SMCHD1 mutations associated with a..:

Shaw, Natalie D ; Brand, Harrison ; Kupchinsky, Zachary A...
Nature Genetics. 49 (2017) 6 - p. 969-969 , 2017

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

7

SMCHD1 mutations associated with a rare muscular dystrophy ..:

Shaw, Natalie D ; Brand, Harrison ; Kupchinsky, Zachary A...
Nature Genetics. 49 (2017) 2 - p. 238-248 , 2017

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

8

Status dystonicus in two patients with SOX2‐anophthalmia sy..:

Gorman, Kathleen M. ; Lynch, Sally A. ; Schneider, Adele...
American Journal of Medical Genetics Part A. 170 (2016) 11 - p. 3048-3050 , 2016

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

9

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause..:

McEntagart, Meriel ; Williamson, Kathleen A. ; Rainger, Jacqueline K....
The American Journal of Human Genetics. 98 (2016) 5 - p. 981-992 , 2016

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

10

Clinical and mutation analysis of 51 probands with anophtha..:

Gerth‐Kahlert, Christina ; Williamson, Kathleen ; Ansari, Morad...
Molecular Genetics & Genomic Medicine. 1 (2013) 1 - p. 15-31 , 2013

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

11

Role ofSOX2Mutations in Human Hippocampal Malformations and..:

Sisodiya, Sanjay M. ; Ragge, Nicola K. ; Cavalleri, Gianpiero L....
Epilepsia. 47 (2006) 3 - p. 534-542 , 2006

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

12

SOX2 anophthalmia syndrome:

Ragge, Nicola K. ; Lorenz, Birgit ; Schneider, Adele...
American Journal of Medical Genetics Part A. 135A (2005) 1 - p. 1-7 , 2005

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

13

EVI1 carboxy-terminal phosphorylation is ATM-mediated and s..:

Paredes, Roberto ; Schneider, Marion ; Stevens, Adam...
Nucleic Acids Research. 46 (2018) 16 - p. 8663-8663 , 2018

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

14

EVI1 carboxy-terminal phosphorylation is ATM-mediated and s..:

Paredes, Roberto ; Schneider, Marion ; Stevens, Frederick...
Paredes , R , Schneider , M , Stevens , F , White , D , Williamson , A J K , Muter , J , Pearson , S , Kelly , J , Connors , K , Wiseman , D , Chadwick , J , Loffler , H , Teng , H Y , Lovell , S , Unwin , R , Van De Vrugt , H J , Smith , H , Kustikova , O , Schambach , A , Somervaille , T , Pierce , A , Whetton , A & Meyer , S 2018 , ' EVI1 carboxy-terminal phosphorylation is ATM-mediated and sustains transcriptional modulation and self-renewal via enhanced CtBP1 association ' , Nucleic acids research , vol. 46 , no. 15 , pp. 7662-7674 . https://doi.org/10.1093/nar/gky536. , 2018

Link: https://research.manches..

15

EVI1 carboxy-terminal phosphorylation is ATM-mediated and s..:

Paredes, Roberto ; Schneider, Marion ; Stevens, Adam...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125627/. , 2018

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