E-LIB Suche - Ergebnisse für: Gerety, S.S

1

Finding Diagnostically Useful Patterns in Quantitative Phen..:

Aitken, Stuart ; Firth, Helen V. ; McRae, Jeremy...
The American Journal of Human Genetics. 105 (2019) 5 - p. 933-946 , 2019

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

2

Valproic Acid silencing ofascl1b/ascl1results in the failur..:

Jacob, J. ; Ribes, V. ; Moore, S....
Disease Models & Mechanisms. , 2013

Link: https://doi.org/10.1242/..

3

Detection of T-Cadherin Expression in Mouse Embryos:

Rubina, К. А. ; Smutova, V. А. ; Semenova, М. L....
Acta Naturae. 7 (2015) 2 - p. 87-94 , 2015

Link: https://doi.org/10.32607..

4

The v-abl tyrosine kinase negatively regulates NF-kappa B/R..:

Klug, C A ; Gerety, S J ; Shah, P C...
Genes & Development. 8 (1994) 6 - p. 678-687 , 1994

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

5

Saturation genome editing of DDX3X clarifies pathogenicity ..:

Radford, Elizabeth J. ; Tan, Hong-Kee ; Andersson, Malin H. L....
Nature Communications. 14 (2023) 1 - p. , 2023

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

6

Optimized whole-genome CRISPR interference screens identify..:

Usluer, Sunay ; Hallast, Pille ; Crepaldi, Luca...
Stem Cell Reports. 18 (2023) 5 - p. 1061-1074 , 2023

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

7

Differentiation of human induced pluripotent stem cells int..:

Neaverson, Alexandra ; Andersson, Malin H. L. ; Arshad, Osama A....
Frontiers in Cell and Developmental Biology. 10 (2023) - p. , 2023

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

8

Rare genetic variants impact muscle strength:

Huang, Yunfeng ; Bodnar, Dora ; Chen, Chia-Yen...
Nature Communications. 14 (2023) 1 - p. , 2023

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

9

Variant Library Annotation Tool (VaLiAnT): an oligonucleoti..:

Barbon, Luca ; Offord, Victoria ; Radford, Elizabeth J...
Bioinformatics. 38 (2021) 4 - p. 892-899 , 2021

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

10

Loss of ADAMTS19 causes progressive non-syndromic heart val..:

Wünnemann, Florian ; Ta-Shma, Asaf ; Preuss, Christoph...
Nature Genetics. 52 (2019) 1 - p. 40-47 , 2019

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

11

Contribution of retrotransposition to developmental disorde..:

Gardner, Eugene J. ; Prigmore, Elena ; Gallone, Giuseppe...
Nature Communications. 10 (2019) 1 - p. , 2019

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

12

Pathogenicity and selective constraint on variation near sp..:

Lord, Jenny ; Gallone, Giuseppe ; Short, Patrick J....
Genome Research. 29 (2018) 2 - p. 159-170 , 2018

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

13

Rare loss-of-function variants in SETD1A are associated wit..:

Swedish Schizophrenia Study ; Singh, Tarjinder ; Kurki, Mitja I...
Nature Neuroscience. 19 (2016) 4 - p. 571-577 , 2016

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

14

Discovery of four recessive developmental disorders using p..:

the DDD study ; Akawi, Nadia ; McRae, Jeremy...
Nature Genetics. 47 (2015) 11 - p. 1363-1369 , 2015

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

15

Rare Variants in NR2F2 Cause Congenital Heart Defects in Hu..:

Al Turki, Saeed ; Manickaraj, Ashok K. ; Mercer, Catherine L....
The American Journal of Human Genetics. 94 (2014) 4 - p. 574-585 , 2014

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