E-LIB Suche - Ergebnisse für: Brueckner, Martina

1

De novo variants in FRYL are associated with developmental ..:

Pan, Xueyang ; Tao, Alice M. ; Lu, Shenzhao...
The American Journal of Human Genetics. 111 (2024) 4 - p. 742-760 , 2024

2

Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mut..:

Mishra-Gorur, Ketu ; Barak, Tanyeri ; Kaulen, Leon D....
Proceedings of the National Academy of Sciences. 121 (2024) 12 - p. , 2024

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

3

Inactivation of Invs/Nphp2 in renal epithelial cells drives..:

Xu, Wenyan ; Li, Yuanyuan ; Makova, Svetlana..
eLife. 12 (2023) - p. , 2023

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

4

The H2Bub1-deposition complex is required for human and mou..:

Barish, Syndi ; Berg, Kathryn ; Drozd, Jeffrey...
Development. 150 (2023) 23 - p. , 2023

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

5

Cilia function as calcium-mediated mechanosensors that inst..:

Djenoune, Lydia ; Mahamdeh, Mohammed ; Truong, Thai V....
Science. 379 (2023) 6627 - p. 71-78 , 2023

Link: https://doi.org/10.1126/..

6

SMC5 Plays Independent Roles in Congenital Heart Disease an..:

O'Brien, Matthew P. ; Pryzhkova, Marina V. ; Lake, Evelyn M. R....
International Journal of Molecular Sciences. 25 (2023) 1 - p. 430 , 2023

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

7

Contribution of Previously Unrecognized RNA Splice-Altering..:

Jang, Min Young ; Patel, Parth N. ; Pereira, Alexandre C....
Circulation: Genomic and Precision Medicine. 16 (2023) 3 - p. 224-231 , 2023

Link: https://doi.org/10.1161/..

8

Pleiotropic role of TRAF7 in skull-base meningiomas and con..:

Mishra-Gorur, Ketu ; Barak, Tanyeri ; Kaulen, Leon D....
Proceedings of the National Academy of Sciences. 120 (2023) 16 - p. , 2023

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

9

Association of genetic and sulcal traits with executive fun..:

Maleyeff, Lara ; Newburger, Jane W. ; Wypij, David...
Annals of Clinical and Translational Neurology. 11 (2023) 2 - p. 278-290 , 2023

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

10

Mutation spectrum of congenital heart disease in a consangu..:

Dong, Weilai ; Kaymakcalan, Hande ; Jin, Sheng Chih...
Molecular Genetics & Genomic Medicine. 10 (2022) 6 - p. , 2022

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

11

Quantifying concordant genetic effects of de novo mutations..:

Guo, Hanmin ; Hou, Lin ; Shi, Yu...
eLife. 11 (2022) - p. , 2022

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

12

Network assisted analysis of de novo variants using protein..:

Xie, Yuhan ; Jiang, Wei ; Dong, Weilai...
PLOS Genetics. 18 (2022) 6 - p. e1010252 , 2022

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

13

A change of heart: new roles for cilia in cardiac developme..:

Djenoune, Lydia ; Berg, Kathryn ; Brueckner, Martina.
Nature Reviews Cardiology. 19 (2021) 4 - p. 211-227 , 2021

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

14

Molecular Genetics and Complex Inheritance of Congenital He..:

Diab, Nicholas S. ; Barish, Syndi ; Dong, Weilai...
Genes. 12 (2021) 7 - p. 1020 , 2021

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

15

Mechanisms of Congenital Heart Disease Caused by NAA15 Hapl..:

Ward, Tarsha ; Tai, Warren ; Morton, Sarah...
Circulation Research. 128 (2021) 8 - p. 1156-1169 , 2021

Link: https://doi.org/10.1161/..