E-LIB Suche - Ergebnisse für: Crow, Yanick J.

1

NOTCH1-Related Leukoencephalopathy: A Novel Variant and Lit..:

Della Vecchia, Stefania ; Tessa, Alessandra ; Pasquariello, Rosa...
International Journal of Molecular Sciences. 25 (2024) 5 - p. 2864 , 2024

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

2

A de novo TLR7 gain-of-function mutation causing severe mon..:

Stremenova Spegarova, Jarmila ; Sinnappurajar, Praisoody ; Al Julandani, Dalila...
Journal of Clinical Investigation. , 2024

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

3

Gain-of-function human UNC93B1 variants cause systemic lupu..:

David, Clémence ; Arango-Franco, Carlos A. ; Badonyi, Mihaly...
Journal of Experimental Medicine. 221 (2024) 8 - p. , 2024

Link: https://doi.org/10.1084/..

4

Interface Gain-of-Function Mutations in TLR7 Cause Systemic..:

David, Clémence ; Badonyi, Mihaly ; Kechiche, Robin...
Journal of Clinical Immunology. 44 (2024) 2 - p. , 2024

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

5

Mutations in the non-catalytic polyproline motif destabiliz..:

Shim, Abraham ; Luan, Xiaohan ; Zhou, Wen..
Human Molecular Genetics. , 2024

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

6

The brain microvasculature is a primary mediator of interfe..:

Viengkhou, Barney ; Hayashida, Emina ; McGlasson, Sarah...
Immunity. , 2024

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

7

Case report: Clinical and neuroradiological longitudinal fo..:

Scaffei, Elena ; Buchignani, Bianca ; Pasquariello, Rosa...
Frontiers in Neurology. 14 (2023) - p. , 2023

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

8

STING-Associated Vasculopathy with Onset in infancy (SAVI) ..:

Ladoux, Clara ; Pasquet, Marlène ; Crow, Yanick J...
Journal of Clinical Immunology. 43 (2023) 4 - p. 699-702 , 2023

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

9

Type I Interferonopathy due to a Homozygous Loss-of-Inhibit..:

Zhu, Gaofeng ; Badonyi, Mihaly ; Franklin, Lina...
Journal of Clinical Immunology. 43 (2023) 4 - p. 808-818 , 2023

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

10

Molecular characterization of an intronic RNASEH2B variant ..:

Leung, Marco L. ; Woodhull, Whitney ; Uggenti, Carolina...
European Journal of Medical Genetics. 66 (2023) 4 - p. 104731 , 2023

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

11

Clinical Non-penetrance Associated with Biallelic Mutations..:

Crow, Yanick J. ; Gonzalez-Granado, Luis I ; Coarelli, Giulia...
Journal of Clinical Immunology. 43 (2023) 4 - p. 706-708 , 2023

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

12

Phenotypes associated with genetic determinants of type I i..:

Rioux, Bastien ; Chong, Michael ; Walker, Rosie...
Wellcome Open Research. 8 (2023) - p. 550 , 2023

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

13

VEXAS syndrome: Expanding the clinical and molecular spectr..:

Robert, Marie ; Berleur, Marie ; Gaudemer, Augustin...
Joint Bone Spine. 90 (2023) 3 - p. 105531 , 2023

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

14

ARF1 prevents aberrant type I interferon induction by regul..:

Hirschenberger, Maximilian ; Lepelley, Alice ; Rupp, Ulrich...
Nature Communications. 14 (2023) 1 - p. , 2023

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

15

Global mapping of RNA homodimers in living cells:

Gabryelska, Marta M. ; Badrock, Andrew P. ; Lau, Jian You...
Genome Research. , 2022

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