E-LIB Suche - Ergebnisse für: Mekbib, Kedous Y.

1

Pathogenic variants in autism geneKATNAL2cause hydrocephalu..:

DeSpenza Jr., Tyrone ; Singh, Amrita ; Allington, Garrett...
Proceedings of the National Academy of Sciences. 121 (2024) 27 - p. , 2024

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

2

Utility of cortical tissue analysis in normal pressure hydr..:

Greenberg, Ana B W ; Mekbib, Kedous Y ; Mehta, Neel H...
Cerebral Cortex. 34 (2024) 2 - p. , 2024

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

3

The choroid plexus links innate immunity to CSF dysregulati..:

Robert, Stephanie M. ; Reeves, Benjamin C. ; Kiziltug, Emre...
Cell. 186 (2023) 4 - p. 764-785.e21 , 2023

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

4

Multiomic analyses implicate a neurodevelopmental program i..:

Kundishora, Adam J. ; Allington, Garrett ; McGee, Stephen...
Nature Medicine. 29 (2023) 3 - p. 667-678 , 2023

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

5

Human genetics and molecular genomics of Chiari malformatio..:

Mekbib, Kedous Y. ; Muñoz, William ; Allington, Garrett...
Trends in Molecular Medicine. 29 (2023) 12 - p. 1059-1075 , 2023

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

6

De Novo Variants in RAB11B Cause Various Degrees of Global ..:

Ahmad, Natalie ; Fazeli, Walid ; Schließke, Sophia...
Pediatric Neurology. 148 (2023) - p. 164-171 , 2023

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

7

A novel SMARCC1 BAFopathy implicates neural progenitor epig..:

Singh, Amrita K ; Allington, Garrett ; Viviano, Stephen...
Brain. 147 (2023) 4 - p. 1553-1570 , 2023

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

8

Mutation of key signaling regulators of cerebrovascular dev..:

Zhao, Shujuan ; Mekbib, Kedous Y. ; van der Ent, Martijn A....
Nature Communications. 14 (2023) 1 - p. , 2023

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

9

Cases of familial idiopathic normal pressure hydrocephalus ..:

Greenberg, Ana B W ; Mehta, Neel H ; Mekbib, Kedous Y...
Cerebral Cortex. 33 (2023) 23 - p. 11400-11407 , 2023

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

10

Familial and syndromic forms of arachnoid cyst implicate ge..:

Qureshi, Hanya M ; Mekbib, Kedous Y ; Allington, Garrett...
Cerebral Cortex. 33 (2022) 6 - p. 3012-3025 , 2022

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

11

Computational Genomics in the Era of Precision Medicine: Ap..:

Wang, Yung-Chun ; Wu, Yuchang ; Choi, Julie...
Journal of Personalized Medicine. 12 (2022) 2 - p. 175 , 2022

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

12

Genetic dysregulation of an endothelial Ras signaling netwo..:

Zhao, Shujuan ; Mekbib, Kedous Y ; van der Ent, Martijn A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055230/. , 2023

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

13

A novel SMARCC1 -mutant BAFopathy implicates epigenetic dys..:

Singh, Amrita K ; Viviano, Stephen ; Allington, Garrett...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055611/. , 2023

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

14

Multiomic analyses implicate a neurodevelopmental program i..:

Kundishora, Adam J ; Allington, Garrett ; McGee, Stephen...
https://discovery.ucl.ac.uk/id/eprint/10166692/1/147973_0_art_file_1133662_rcbb0h.pdf. , 2023

Link: https://discovery.ucl.ac..

15

Computational Genomics in the Era of Precision Medicine: Ap..:

Yung-Chun Wang ; Yuchang Wu ; Julie Choi...
Omics/Informatics. , 2022

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