E-LIB Suche - Ergebnisse für: Jason R Willer

1

TNF promoter hypomethylation is associated with mucosal inf..:

Levic, Daniel S. ; Niedzwiecki, Donna ; Kandakatla, Apoorva...
Gastro Hep Advances. , 2024

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

2

An atypical form of 60S ribosomal subunit in Diamond-Blackf..:

Fellmann, Florence ; Saunders, Carol ; O'Donohue, Marie-Françoise...
JCI Insight. , 2024

Link: https://doi.org/10.1172/..

3

Disrupting the ciliary gradient of active Arl3 affects rod ..:

Travis, Amanda M ; Manocha, Samiya ; Willer, Jason R...
eLife. 12 (2023) - p. , 2023

Link: https://doi.org/10.7554/..

4

CEP162 deficiency causes human retinal degeneration and rev..:

Nuzhat, Nafisa ; Van Schil, Kristof ; Liakopoulos, Sandra...
Journal of Clinical Investigation. 133 (2023) 8 - p. , 2023

Link: https://doi.org/10.1172/..

5

The tectonic complex regulates membrane protein composition..:

Truong, Hanh M. ; Cruz-Colón, Kevin O. ; Martínez-Márquez, Jorge Y....
Nature Communications. 14 (2023) 1 - p. , 2023

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

6

The GARP Domain of the Rod CNG Channel's β1-Subunit Contain..:

Pearring, Jillian N. ; Martínez-Márquez, Jorge ; Willer, Jason R....
The Journal of Neuroscience. 41 (2021) 14 - p. 3094-3104 , 2021

Link: https://doi.org/10.1523/..

7

Mutations in ATP13A2 (PARK9) are associated with an amyotro..:

Spataro, Rossella ; Kousi, Maria ; Farhan, Sali M. K....
Human Genomics. 13 (2019) 1 - p. , 2019

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

8

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/..

9

Partial uniparental isodisomy of chromosome 16 unmasks a de..:

Helm, Benjamin M. ; Willer, Jason R. ; Sadeghpour, Azita...
Human Genomics. 11 (2017) 1 - p. , 2017

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

10

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/..

11

Systematic Functional Testing of Rare Variants: Contributio..:

Tan, Perciliz L. ; Garrett, Melanie E. ; Willer, Jason R....
Investigative Opthalmology & Visual Science. 58 (2017) 3 - p. 1570 , 2017

Link: https://doi.org/10.1167/..

12

An organelle-specific protein landscape identifies novel di..:

Boldt, Karsten ; van Reeuwijk, Jeroen ; Lu, Qianhao...
Nature Communications. 7 (2016) 1 - p. , 2016

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

13

A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrup..:

Brooks, Susan S ; Wall, Alissa L ; Golzio, Christelle...
Genetics. 198 (2014) 2 - p. 723-733 , 2014

Link: https://doi.org/10.1534/..

14

rnaset2 mutant zebrafish model familial cystic leukoencepha..:

Haud, Noémie ; Kara, Firat ; Diekmann, Simone...
Proceedings of the National Academy of Sciences of the United States of America. 108 (2011) 3 - p. 1099-1103 , 2011

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

15

Mutations in Zebrafish lrp2 Result in Adult-Onset Ocular Pa..:

Veth, Kerry N. ; Willer, Jason R. ; Collery, Ross F....
PLoS Genetics. 7 (2011) 2 - p. e1001310 , 2011

Link: https://doi.org/10.1371/..